Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	ACHILLES_Lineage_Results_Top_Genes	CGC_CancerGermlineMut	CGC_CancerMolecularGenetics	CGC_CancerSomaticMut	CGC_CancerSyndrome	CGC_Chr	CGC_ChrBand	CGC_GeneID	CGC_Name	CGC_OtherGermlineMut	CGC_TissueType	COSMIC_n_overlapping_mutations	COSMIC_overlapping_mutation_descriptions	ClinVar_ASSEMBLY	ClinVar_HGMD_ID	ClinVar_SYM	ClinVar_TYPE	ClinVar_rs	Ensembl_so_accession	Ensembl_so_term	Familial_Cancer_Genes_Reference	Familial_Cancer_Genes_Synonym	annotation_transcript	bcgsc	broad	build	ccds_id	dbNSFP_1000Gp1_AC	dbNSFP_1000Gp1_AF	dbNSFP_1000Gp1_AFR_AC	dbNSFP_1000Gp1_AFR_AF	dbNSFP_1000Gp1_AMR_AC	dbNSFP_1000Gp1_AMR_AF	dbNSFP_1000Gp1_ASN_AC	dbNSFP_1000Gp1_ASN_AF	dbNSFP_1000Gp1_EUR_AC	dbNSFP_1000Gp1_EUR_AF	dbNSFP_Ancestral_allele	dbNSFP_CADD_phred	dbNSFP_CADD_raw	dbNSFP_CADD_raw_rankscore	dbNSFP_ESP6500_AA_AF	dbNSFP_ESP6500_EA_AF	dbNSFP_Ensembl_geneid	dbNSFP_Ensembl_transcriptid	dbNSFP_FATHMM_pred	dbNSFP_FATHMM_rankscore	dbNSFP_FATHMM_score	dbNSFP_GERP_NR	dbNSFP_GERP_RS	dbNSFP_GERP_RS_rankscore	dbNSFP_Interpro_domain	dbNSFP_LRT_Omega	dbNSFP_LRT_converted_rankscore	dbNSFP_LRT_pred	dbNSFP_LRT_score	dbNSFP_LR_pred	dbNSFP_LR_rankscore	dbNSFP_LR_score	dbNSFP_MutationAssessor_pred	dbNSFP_MutationAssessor_rankscore	dbNSFP_MutationAssessor_score	dbNSFP_MutationTaster_converted_rankscore	dbNSFP_MutationTaster_pred	dbNSFP_MutationTaster_score	dbNSFP_Polyphen2_HDIV_pred	dbNSFP_Polyphen2_HDIV_rankscore	dbNSFP_Polyphen2_HDIV_score	dbNSFP_Polyphen2_HVAR_pred	dbNSFP_Polyphen2_HVAR_rankscore	dbNSFP_Polyphen2_HVAR_score	dbNSFP_RadialSVM_pred	dbNSFP_RadialSVM_rankscore	dbNSFP_RadialSVM_score	dbNSFP_Reliability_index	dbNSFP_SIFT_converted_rankscore	dbNSFP_SIFT_pred	dbNSFP_SIFT_score	dbNSFP_SLR_test_statistic	dbNSFP_SiPhy_29way_logOdds	dbNSFP_SiPhy_29way_logOdds_rankscore	dbNSFP_SiPhy_29way_pi	dbNSFP_UniSNP_ids	dbNSFP_Uniprot_aapos	dbNSFP_Uniprot_acc	dbNSFP_Uniprot_id	dbNSFP_aaalt	dbNSFP_aapos	dbNSFP_aapos_FATHMM	dbNSFP_aapos_SIFT	dbNSFP_aaref	dbNSFP_cds_strand	dbNSFP_codonpos	dbNSFP_folddegenerate	dbNSFP_genename	dbNSFP_hg18_pos1coor	dbNSFP_phastCons100way_vertebrate	dbNSFP_phastCons100way_vertebrate_rankscore	dbNSFP_phastCons46way_placental	dbNSFP_phastCons46way_placental_rankscore	dbNSFP_phastCons46way_primate	dbNSFP_phastCons46way_primate_rankscore	dbNSFP_phyloP100way_vertebrate	dbNSFP_phyloP100way_vertebrate_rankscore	dbNSFP_phyloP46way_placental	dbNSFP_phyloP46way_placental_rankscore	dbNSFP_phyloP46way_primate	dbNSFP_phyloP46way_primate_rankscore	dbNSFP_refcodon	entrez_gene_id	external_id_capture	gencode_transcript_name	gencode_transcript_status	gencode_transcript_tags	gencode_transcript_type	gene_type	havana_transcript	hgsc	igv_bad	ucsc	t_alt_count	t_ref_count	n_alt_count	n_ref_count	validation_judgement_rna	validation_power_rna	validation_tumor_alt_count_rna	validation_tumor_ref_count_rna	validation_normal_alt_count_rna	validation_normal_ref_count_rna	min_val_count_rna	validation_judgement_targeted	validation_power_targeted	validation_tumor_alt_count_targeted	validation_tumor_ref_count_targeted	validation_normal_alt_count_targeted	validation_normal_ref_count_targeted	min_val_count_targeted	validation_judgement_localAssembly	validation_power_localAssembly	t_alt_count_localAssembly	t_ref_count_localAssembly	n_alt_count_localAssembly	n_ref_count_localAssembly	min_val_count_localAssembly	validation_judgement_KRAS	validation_power_KRAS	t_alt_count_KRAS	t_ref_count_KRAS	n_alt_count_KRAS	n_ref_count_KRAS	min_val_count_KRAS	pon_loglike	pon_pass_loglike	localAssembly_detected	ExAC_AN	ExAC_AC	ExAC_LQ	passExAC	SCNA_NA	SCNA_NB	SCNA_q_hat	SCNA_tau	IS_SCNA	purity	ploidy	dna_fraction_in_tumor	CCF_hat	CCF_CI95_low	CCF_CI95_high	CCF_mode	CCF_mean	CCF_median	clonal	CCF_CI_low	CCF_CI_high
COPS7B	64708	broad.mit.edu	37	2	232672287	232672288	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr2:232672287_232672288insA	ENST00000350033.3	+	7	868_869	c.727_728insA	c.(727-729)cacfs	p.H243fs	COPS7B_ENST00000409091.1_Frame_Shift_Ins_p.H136fs|COPS7B_ENST00000373608.3_Frame_Shift_Ins_p.T261fs|COPS7B_ENST00000409295.1_Frame_Shift_Ins_p.H209fs|COPS7B_ENST00000410024.1_Frame_Shift_Ins_p.H243fs|RP11-690I21.2_ENST00000563949.1_RNA|COPS7B_ENST00000410017.1_Frame_Shift_Ins_p.T266fs	NM_001282949.1|NM_022730.1	NP_001269878.1|NP_073567.1	Q9H9Q2	CSN7B_HUMAN	COP9 signalosome subunit 7B			8		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Renal(207;0.025)			GTGTCCCCCTCACGCTGAGCAG	0.614000																								0							SO:0001589	frameshift_variant			ENST00000350033.3	0	1	hg19	CCDS2488.1																																																																																				TCGA-HZ-8001-01A-11D-2201-08	COPS7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256964.2	1	0	0	10	104	0	19	0	9.885156e-01	0	84	0	19	2	0	0	0	0	0	0		1	0.997849	13	106	0	20	2	0	0	0	0	0	0		-15.830590	1	1	0	0		1	0	1	1	2.007643	0	0.150000	1.920000	0.145514	0.990000	0.600000	1.000000	1.000000	0.945801	0.990000	1	8.500000e-01	1
MTUS1	57509	broad.mit.edu	37	8	17612188	17612192	+	Frame_Shift_Del	DEL	TGTCT	TGTCT	-			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr8:17612188_17612192delTGTCT	ENST00000262102.6	-	2	1349_1353	c.1125_1129delAGACA	c.(1123-1131)gaagacacafs	p.EDT375fs	MTUS1_ENST00000519263.1_Frame_Shift_Del_p.EDT375fs|MTUS1_ENST00000381862.3_Frame_Shift_Del_p.EDT375fs|MTUS1_ENST00000381869.3_Frame_Shift_Del_p.EDT375fs	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1			36					ACCATTTGTGTGTCTTCAGTCTCAG	0.444000																								0							SO:0001589	frameshift_variant			ENST00000262102.6	0	1	hg19	CCDS43717.1																																																																																				TCGA-HZ-8001-01A-11D-2201-08	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	1	0	0	16	279	0	61	0	1.903069e-02	0	4	0	61	2	0	0	0	0	0	0		0	0.201038	19	277	2	63	22	0	0	0	0	0	0		-18.354210	1	1	0	0		1	1	2	3	2.045816	0	0.150000	1.920000	0.160701	0.770000	0.450000	1.000000	1.000000	0.782545	0.770000	0	5.900000e-01	1
COL13A1	1305	broad.mit.edu	37	10	71683572	71683572	+	Silent	SNP	C	C	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr10:71683572C>T	ENST00000398978.3	+	23	1704	c.1212C>T	c.(1210-1212)gtC>gtT	p.V404V	COL13A1_ENST00000398969.3_Silent_p.V347V|COL13A1_ENST00000357811.3_Silent_p.V382V|COL13A1_ENST00000520267.1_Silent_p.V347V|COL13A1_ENST00000398966.3_Silent_p.V382V|COL13A1_ENST00000398974.3_Silent_p.V392V|COL13A1_ENST00000398968.3_Silent_p.V385V|COL13A1_ENST00000354547.3_Silent_p.V382V|COL13A1_ENST00000522165.1_Silent_p.V385V|COL13A1_ENST00000398964.3_Silent_p.V375V|COL13A1_ENST00000398973.3_Silent_p.V404V|COL13A1_ENST00000398972.3_Silent_p.V404V|COL13A1_ENST00000398971.3_Silent_p.V404V|COL13A1_ENST00000517713.1_Silent_p.V382V|COL13A1_ENST00000356340.3_Silent_p.V404V|COL13A1_ENST00000520133.1_Silent_p.V353V	NM_001130103.1	NP_001123575.1			collagen, type XIII, alpha 1			28					AAGCAGGTGTCGATGGCCAGG	0.592000																								0							SO:0001819	synonymous_variant			ENST00000398978.3	0	1	hg19	CCDS44419.1																																																																																				TCGA-HZ-8001-01A-11D-2201-08	COL13A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048468.1	1	0	0	7	102	0	17	0	4.396492e-01	0	20	0	17	2		0	0	0	0	0	2	1	0.979820	6	100	0	17	2		0	0	0	0	17	2	-11.104030	1	1	120912	2	21	1	0	0	0	1.965170	0	0.150000	1.920000	0.126413	0.830000	0.380000	1.000000	1.000000	0.805576	0.830000	0	5.800000e-01	1
ABCC8	6833	broad.mit.edu	37	11	17415843	17415843	+	Silent	SNP	G	G	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr11:17415843G>A	ENST00000389817.3	-	37	4583	c.4515C>T	c.(4513-4515)gaC>gaT	p.D1505D	ABCC8_ENST00000302539.4_Silent_p.D1506D			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8			67				Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	CCGTGGCCTCGTCCATGATGA	0.577000																								0							SO:0001819	synonymous_variant			ENST00000389817.3	1	1	hg19	CCDS31437.1																																																																																				TCGA-HZ-8001-01A-11D-2201-08	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	0	0	0	24	583	0	104	0	9.999999e-01	0	691	0	104	2		0	0	0	0	0	2	1	1.000000	23	577	0	103	2		0	0	0	0	104	2	-4.356419	1	1	121412	5	41	1	1	2	3	2.041610	0	0.150000	1.920000	0.159456	0.550000	0.350000	1.000000	0.530000	0.602299	0.550000	0	4.400000e-01	7.400000e-01
OR5L2	26338	broad.mit.edu	37	11	55595169	55595169	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr11:55595169C>A	ENST00000378397.1	+	1	475	c.475C>A	c.(475-477)Cac>Aac	p.H159N		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2			59		all_epithelial(135;0.208)			TTCTCTGATTCACTCGTCCTT	0.483000										HNSCC(27;0.073)														0							SO:0001583	missense			ENST00000378397.1	1	1	hg19	CCDS31511.1	.	.	.	.	.	.	.	.	.	.	.	10.30	1.310982	0.23821	.	.	ENSG00000205030	ENST00000378397	T	0.00262	8.4	5.18	5.18	0.71444	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000039	T	0.00496	0.0016	M	0.68593	2.085	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.56062	-0.8041	10	0.59425	D	0.04	-34.9027	12.8637	0.57928	0.163:0.837:0.0:0.0	.	159	Q8NGL0	OR5L2_HUMAN	N	159	ENSP00000367650:H159N	ENSP00000367650:H159N	H	+	1	0	OR5L2	55351745	0.000000	0.05858	0.124000	0.21820	0.008000	0.06430	0.901000	0.28445	2.613000	0.88420	0.626000	0.83405	CAC		TCGA-HZ-8001-01A-11D-2201-08	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391516.1	0	0	0	95	1074	1	202		0	0	0	1	202	2		0	0	0	0	0	2	1	1.000000	94	1065	1	200	20		0	0	0	1	202	2	-19.893610	1	1	0	0		1	1	2	3	2.041610	0	0.150000	1.920000	0.159456	0.990000	0.890000	1.000000	1.000000	0.991695	0.990000	1	9.900000e-01	1
IRF7	3665	broad.mit.edu	37	11	613476	613476	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr11:613476C>T	ENST00000397574.2	-	9	1336	c.967G>A	c.(967-969)Gcc>Acc	p.A323T	IRF7_ENST00000525445.1_Missense_Mutation_p.A217T|IRF7_ENST00000397570.1_Missense_Mutation_p.A294T|IRF7_ENST00000397562.3_Missense_Mutation_p.A30T|IRF7_ENST00000348655.6_Missense_Mutation_p.A294T|IRF7_ENST00000397566.1_Missense_Mutation_p.A336T|IRF7_ENST00000330243.5_Missense_Mutation_p.A336T	NM_001572.3	NP_001563.2	Q92985	IRF7_HUMAN	interferon regulatory factor 7			8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)			GGGTCTGTGGCCCGGACAGCT	0.672000																								0							SO:0001583	missense			ENST00000397574.2	1	1	hg19	CCDS7703.1	.	.	.	.	.	.	.	.	.	.	C	6.185	0.402214	0.11696	.	.	ENSG00000185507	ENST00000525445;ENST00000348655;ENST00000397570;ENST00000397566;ENST00000397574;ENST00000397562;ENST00000330243	T;T;T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5;0.5;0.5	3.84	-0.911	0.10507	SMAD domain-like (1);SMAD/FHA domain (1);Interferon regulatory factor-3 (1);	1.324750	0.05437	N	0.547019	T	0.31482	0.0798	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.29955	0.263;0.029;0.248;0.208	B;B;B;B	0.31614	0.133;0.02;0.112;0.068	T	0.12218	-1.0556	10	0.16420	T	0.52	-2.4318	1.6157	0.02703	0.1576:0.3487:0.3081:0.1857	.	217;294;323;336	E9PSE3;Q92985-2;Q92985;Q92985-4	.;.;IRF7_HUMAN;.	T	217;294;294;336;323;30;336	ENSP00000434009:A217T;ENSP00000331803:A294T;ENSP00000380700:A294T;ENSP00000380697:A336T;ENSP00000380704:A323T;ENSP00000380693:A30T;ENSP00000329411:A336T	ENSP00000329411:A336T	A	-	1	0	IRF7	603476	0.003000	0.15002	0.000000	0.03702	0.002000	0.02628	1.084000	0.30828	-0.269000	0.09298	0.561000	0.74099	GCC		TCGA-HZ-8001-01A-11D-2201-08	IRF7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255026.1	1	0	0	30	503	0	96	1	8.131308e-01	4	50	0	96	2		0	0	0	0	0	2	1	1.000000	30	492	0	96	2		0	0	0	0	96	2	-3.318794	1	1	0	0		1	1	2	3	2.041610	0	0.150000	1.920000	0.159456	0.780000	0.530000	1.000000	1.000000	0.797124	0.780000	0	6.400000e-01	1
LHX5	64211	broad.mit.edu	37	12	113905137	113905137	+	Silent	SNP	C	C	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr12:113905137C>T	ENST00000261731.3	-	4	1338	c.765G>A	c.(763-765)ccG>ccA	p.P255P		NM_022363.2	NP_071758.1	Q9H2C1	LHX5_HUMAN	LIM homeobox 5			10					GCATGCGCCGCGGACTCCGGA	0.657000																								0							SO:0001819	synonymous_variant			ENST00000261731.3	0	1	hg19	CCDS9171.1																																																																																				TCGA-HZ-8001-01A-11D-2201-08	LHX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404788.3	0	0	0	4	63	0	19		0	0	0	0	19	2		0	0	0	0	0	2	1	0.877405	4	59	0	19	2		0	0	0	0	19	2	-8.450150	1	1	0	0		1	0	0	0	1.987763	0	0.150000	1.920000	0.135740	0.800000	0.280000	1.000000	1.000000	0.769019	0.800000	0	5.000000e-01	1
DNAH10	196385	broad.mit.edu	37	12	124352474	124352474	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr12:124352474G>T	ENST00000409039.3	+	42	6998	c.6973G>T	c.(6973-6975)Gat>Tat	p.D2325Y		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10			52	all_neural(191;0.101)|Medulloblastoma(191;0.163)				CAAGATGTTGGATGCGTTGCT	0.512000																								0							SO:0001583	missense			ENST00000409039.3	1	1	hg19	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	19.28	3.797647	0.70567	.	.	ENSG00000197653	ENST00000409039	D	0.92595	-3.07	5.34	5.34	0.76211	.	0.168199	0.39687	U	0.001293	D	0.96836	0.8967	M	0.91972	3.26	0.80722	D	1	D	0.76494	0.999	D	0.66196	0.942	D	0.97569	1.0103	10	0.87932	D	0	.	19.0351	0.92974	0.0:0.0:1.0:0.0	.	2325	Q8IVF4	DYH10_HUMAN	Y	2325	ENSP00000386770:D2325Y	ENSP00000386770:D2325Y	D	+	1	0	DNAH10	122918427	1.000000	0.71417	0.963000	0.40424	0.510000	0.34073	7.974000	0.88039	2.495000	0.84180	0.467000	0.42956	GAT		TCGA-HZ-8001-01A-11D-2201-08	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3	1	0	0	8	133	0	28		0	0	0	0	28	2		0	0	0	0	0	2	1	0.989108	8	130	0	28	2		0	0	0	0	28	2	-11.540010	1	1	0	0		1	0	0	0	1.987763	0	0.150000	1.920000	0.135740	0.750000	0.360000	1.000000	1.000000	0.755217	0.750000	0	5.300000e-01	1
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	KRAS_deep			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)						SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	ENST00000256078.4	1	1	hg19	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		TCGA-HZ-8001-01A-11D-2201-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	0	10	128	0	30	0	3.540391e-02	1	3	0	30	2	1	9.999985e-01	30	393	0	341	2	1	0.997007	10	126	0	30	2	1	1	1063	6927	0	30	2	-5.801681	1	1	0	0		1	0	0	0	1.987763	0	0.150000	1.920000	0.135740	0.940000	0.490000	1.000000	1.000000	0.878741	0.940000	1	6.900000e-01	1
CNPY2	10330	broad.mit.edu	37	12	56705037	56705037	+	Silent	SNP	G	G	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr12:56705037G>A	ENST00000273308.4	-	4	906	c.366C>T	c.(364-366)ggC>ggT	p.G122G	RP11-977G19.10_ENST00000549318.1_Silent_p.G122G|RP11-977G19.11_ENST00000549860.1_RNA|CNPY2_ENST00000551720.1_5'Flank|RP11-977G19.11_ENST00000549565.1_RNA|RP11-977G19.12_ENST00000546789.1_RNA	NM_014255.5	NP_055070.1	Q9Y2B0	CNPY2_HUMAN	canopy FGF signaling regulator 2			4					CGATTCGGATGCCTTGTAGGT	0.502000																								0							SO:0001819	synonymous_variant			ENST00000273308.4	1	1	hg19	CCDS8914.1																																																																																				TCGA-HZ-8001-01A-11D-2201-08	CNPY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408546.1	1	0	0	71	1084	0	199	1	1	50	747	0	199	2		0	0	0	0	0	2	1	1.000000	71	1069	0	198	2		0	0	0	0	199	2	-10.675380	1	1	0	0		1	0	0	0	1.987763	0	0.150000	1.920000	0.135740	0.800000	0.630000	0.990000	0.800000	0.810471	0.800000	0	7.100000e-01	9.000000e-01
SLC10A2	6555	broad.mit.edu	37	13	103718456	103718456	+	Silent	SNP	G	G	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr13:103718456G>A	ENST00000245312.3	-	1	740	c.144C>T	c.(142-144)tcC>tcT	p.S48S		NM_000452.2	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2			34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)			Aciclovir(DB00787)|Cyclosporine(DB00091)|Ursodeoxycholic acid(DB01586)|Valaciclovir(DB00577)	TGCATCCCATGGAGAACATCA	0.493000																								0							SO:0001819	synonymous_variant			ENST00000245312.3	1	1	hg19	CCDS9506.1																																																																																				TCGA-HZ-8001-01A-11D-2201-08	SLC10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045716.1	0	0	0	32	828	0	131		0	0	0	0	131	2		0	0	0	0	0	2	1	1.000000	32	820	0	131	2		0	0	0	0	131	2	-2.817278	1	1	0	0		1	1	2	3	2.043056	0	0.150000	1.920000	0.160079	0.510000	0.350000	1.000000	0.500000	0.574602	0.510000	0	4.200000e-01	6.800000e-01
BTBD6	90135	broad.mit.edu	37	14	105716868	105716868	+	Silent	SNP	C	C	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr14:105716868C>T	ENST00000392554.3	+	4	1614	c.1317C>T	c.(1315-1317)agC>agT	p.S439S	BRF1_ENST00000440513.3_Intron|BRF1_ENST00000379937.2_Intron|BRF1_ENST00000392557.4_5'Flank|BRF1_ENST00000327359.3_Intron|BRF1_ENST00000546474.1_Intron|BTBD6_ENST00000327471.3_Silent_p.S364S|BRF1_ENST00000446501.2_5'Flank|BTBD6_ENST00000463376.2_Silent_p.S364S|BTBD6_ENST00000536364.1_Silent_p.S439S			Q96KE9	BTBD6_HUMAN	BTB (POZ) domain containing 6			4		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.0163)|Epithelial(46;0.0391)		TGGACGGCAGCGAACTCAGCT	0.592000																								0							SO:0001819	synonymous_variant			ENST00000392554.3	1	1	hg19	CCDS10002.2																																																																																				TCGA-HZ-8001-01A-11D-2201-08	BTBD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074556.4	0	0	0	64	622	1	100	0	9.995860e-01	0	313	1	100	12		0	0	0	0	0	2	1	0.999999	62	610	1	100	22		0	0	0	1	100	2	-3.142702	1	1	0	0		1	1	2	3	2.043118	0	0.150000	1.920000	0.160079	0.990000	0.990000	1.000000	1.000000	0.998672	0.990000	1	9.900000e-01	1
MDGA2	161357	broad.mit.edu	37	14	47343307	47343307	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr14:47343307C>T	ENST00000399232.2	-	13	2691	c.2327G>A	c.(2326-2328)aGa>aAa	p.R776K	MDGA2_ENST00000357362.3_Missense_Mutation_p.R547K|MDGA2_ENST00000399222.3_5'UTR|MDGA2_ENST00000426342.1_Missense_Mutation_p.R547K|MDGA2_ENST00000439988.3_Missense_Mutation_p.R845K	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2			76					TTTTGTATTTCTTGTTGCTGT	0.373000																								0							SO:0001583	missense			ENST00000399232.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	29.8	5.041051	0.93685	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	T;T;T;T	0.02032	4.49;4.49;4.49;4.49	5.37	5.37	0.77165	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.000000	0.50627	U	0.000107	T	0.07863	0.0197	L	0.52011	1.625	0.80722	D	1	P;P	0.44877	0.845;0.804	P;P	0.55222	0.458;0.771	T	0.17653	-1.0362	10	0.44086	T	0.13	.	17.6763	0.88232	0.0:1.0:0.0:0.0	.	547;776	F6W3S7;Q7Z553	.;MDGA2_HUMAN	K	776;547;845;547	ENSP00000400011:R776K;ENSP00000405456:R547K;ENSP00000382178:R845K;ENSP00000349925:R547K	ENSP00000349925:R547K	R	-	2	0	MDGA2	46413057	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.487000	0.81328	2.501000	0.84356	0.467000	0.42956	AGA		TCGA-HZ-8001-01A-11D-2201-08	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	0	0	0	23	542	0	71		0	0	0	0	71	2		0	0	0	0	0	2	1	0.999999	23	535	0	71	2		0	0	0	0	71	2	-4.065207	1	1	0	0		1	1	2	3	2.043118	0	0.150000	1.920000	0.160079	0.570000	0.360000	1.000000	0.550000	0.620421	0.570000	0	4.500000e-01	7.800000e-01
CASC5	57082	broad.mit.edu	37	15	40898600	40898600	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr15:40898600C>G	ENST00000346991.5	+	4	475	c.85C>G	c.(85-87)Ccc>Gcc	p.P29A	CASC5_ENST00000527044.1_Missense_Mutation_p.P29A|CASC5_ENST00000399668.2_Missense_Mutation_p.P29A|snoU13_ENST00000459027.1_RNA			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5			57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)			GATATTGAAACCCCCAAGGAG	0.318000																								0							SO:0001583	missense			ENST00000346991.5	1	1	hg19	CCDS42023.1	.	.	.	.	.	.	.	.	.	.	C	12.01	1.810592	0.32053	.	.	ENSG00000137812	ENST00000346991;ENST00000260369;ENST00000527044;ENST00000399668	T;T;T	0.22945	1.93;1.93;1.93	4.53	4.53	0.55603	.	0.240709	0.28241	N	0.016077	T	0.33498	0.0865	L	0.42245	1.32	0.27413	N	0.954519	D;D;D	0.60160	0.987;0.987;0.987	P;P;P	0.60236	0.871;0.871;0.871	T	0.08106	-1.0738	10	0.17369	T	0.5	.	10.6218	0.45484	0.0:0.8052:0.1948:0.0	.	29;29;29	Q8NG31-2;Q8NG31;Q8NG31-4	.;CASC5_HUMAN;.	A	29	ENSP00000335463:P29A;ENSP00000432654:P29A;ENSP00000382576:P29A	ENSP00000260369:P29A	P	+	1	0	CASC5	38685892	1.000000	0.71417	1.000000	0.80357	0.705000	0.40729	2.404000	0.44539	2.362000	0.80069	0.467000	0.42956	CCC		TCGA-HZ-8001-01A-11D-2201-08	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	0	0	0	8	249	0	43		0	0	0	0	43	2		0	0	0	0	0	2	1	0.988998	8	245	0	43	2		0	0	0	0	43	2	-3.199974	1	1	0	0		1	0	0	0	1.958945	0	0.150000	1.920000	0.123711	0.410000	0.190000	0.730000	0.400000	0.437015	0.410000	0	2.900000e-01	5.700000e-01
HS3ST2	9956	broad.mit.edu	37	16	22926868	22926868	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr16:22926868C>A	ENST00000261374.3	+	2	1523	c.1089C>A	c.(1087-1089)gaC>gaA	p.D363E		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2			19					TTGGGCAGGACTTCAGGTGGG	0.463000																								0							SO:0001583	missense			ENST00000261374.3	1	1	hg19	CCDS10606.1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.101853	0.56183	.	.	ENSG00000122254	ENST00000261374	T	0.48522	0.81	5.11	3.15	0.36227	.	0.049322	0.85682	D	0.000000	T	0.47284	0.1437	M	0.66297	2.02	0.58432	D	0.999999	P	0.39748	0.686	B	0.41764	0.366	T	0.49000	-0.8984	10	0.49607	T	0.09	.	9.9236	0.41478	0.0:0.8365:0.0:0.1635	.	363	Q9Y278	HS3S2_HUMAN	E	363	ENSP00000261374:D363E	ENSP00000261374:D363E	D	+	3	2	HS3ST2	22834369	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	2.179000	0.42528	1.149000	0.42402	0.561000	0.74099	GAC		TCGA-HZ-8001-01A-11D-2201-08	HS3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211598.1	0	0	0	23	602	0	115	0	7.569960e-01	0	73	0	115	2		0	0	0	0	0	2	1	0.999999	23	592	0	115	2		0	0	0	0	115	2	-19.911270	1	1	0	0		1	1	2	3	2.039274	0	0.150000	1.920000	0.159456	0.510000	0.320000	1.000000	0.500000	0.569752	0.510000	0	4.100000e-01	6.900000e-01
SNX20	124460	broad.mit.edu	37	16	50711341	50711341	+	Missense_Mutation	SNP	C	C	T	rs34428900		TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr16:50711341C>T	ENST00000330943.4	-	2	268	c.97G>A	c.(97-99)Gac>Aac	p.D33N	SNX20_ENST00000300590.3_Missense_Mutation_p.D33N|SNX20_ENST00000423026.2_Missense_Mutation_p.D33N	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN	sorting nexin 20			15					TGCGGGAGGTCGGGGCCAGTG	0.617000																								0							SO:0001583	missense			ENST00000330943.4	1	1	hg19	CCDS10745.1	.	.	.	.	.	.	.	.	.	.	C	12.37	1.918679	0.33908	2.27E-4	0.0	ENSG00000167208	ENST00000300590;ENST00000423026;ENST00000330943;ENST00000413750	T;T;T	0.52295	0.67;0.72;1.34	4.2	2.21	0.28008	.	1.051240	0.07436	N	0.896485	T	0.48840	0.1522	L	0.27053	0.805	0.09310	N	1	D;P;D	0.71674	0.998;0.553;0.989	P;B;P	0.59948	0.866;0.059;0.727	T	0.35076	-0.9803	10	0.45353	T	0.12	-29.3821	6.0059	0.19547	0.0:0.7056:0.1911:0.1033	rs34428900	33;33;33	Q7Z614-3;Q7Z614;Q7Z614-4	.;SNX20_HUMAN;.	N	33	ENSP00000300590:D33N;ENSP00000388875:D33N;ENSP00000332062:D33N	ENSP00000300590:D33N	D	-	1	0	SNX20	49268842	0.114000	0.22134	0.008000	0.14137	0.008000	0.06430	0.376000	0.20535	0.692000	0.31613	-0.369000	0.07265	GAC		TCGA-HZ-8001-01A-11D-2201-08	SNX20-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256879.2	1	0	0	54	549	0	97	0	3.986477e-01	0	14	0	97	2		0	0	0	0	0	2	1	1.000000	49	505	0	90	2		0	0	0	0	97	2	-15.256040	1	1	121412	12	44	1	1	2	3	2.039274	0	0.150000	1.920000	0.159456	0.990000	0.920000	1.000000	1.000000	0.995852	0.990000	1	9.900000e-01	1
TMEM231	79583	broad.mit.edu	37	16	75579249	75579249	+	Splice_Site	SNP	C	C	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr16:75579249C>T	ENST00000258173.6	-	4	659		c.e4+1		TMEM231_ENST00000568377.1_Splice_Site|RP11-77K12.7_ENST00000460606.1_Splice_Site|TMEM231_ENST00000569294.1_Splice_Site|RP11-77K12.8_ENST00000564489.1_RNA|TMEM231_ENST00000565067.1_Intron	NM_001077418.1	NP_001070886.1	Q9H6L2	TM231_HUMAN	transmembrane protein 231			5					AGCGCTCTTACGTTGTATCGG	0.507000																								0							SO:0001630	splice_region_variant			ENST00000258173.6	1	1	hg19	CCDS45530.1	.	.	.	.	.	.	.	.	.	.	C	7.772	0.707761	0.15239	.	.	ENSG00000205084	ENST00000258173;ENST00000398114	.	.	.	4.19	3.23	0.37069	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.3979	0.49854	0.0:0.9078:0.0:0.0922	.	.	.	.	.	-1	.	.	.	-	.	.	TMEM231	74136750	1.000000	0.71417	0.962000	0.40283	0.003000	0.03518	7.478000	0.81082	1.072000	0.40860	-0.384000	0.06662	.		TCGA-HZ-8001-01A-11D-2201-08	TMEM231-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435481.2	0	0	0	21	988	0	170		0	0	0	0	170	2		0	0	0	0	0	2	1	0.999997	21	971	0	171	2		0	0	0	0	170	2	-2.819521	1	1	120914	2	37	1	1	2	3	2.043611	0	0.150000	1.920000	0.160079	0.290000	0.180000	1.000000	0.280000	0.381116	0.290000	0	2.300000e-01	4.100000e-01
GPR179	440435	broad.mit.edu	37	17	36499508	36499508	+	Silent	SNP	C	C	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr17:36499508C>T	ENST00000342292.4	-	1	185	c.165G>A	c.(163-165)ggG>ggA	p.G55G		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179			60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)			CGGCCTCGGCCCCCTCTAGGG	0.637000																								0							SO:0001819	synonymous_variant			ENST00000342292.4	1	1	hg19	CCDS42308.1																																																																																				TCGA-HZ-8001-01A-11D-2201-08	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2	0	0	0	14	414	0	92		0	0	0	0	92	2		0	0	0	0	0	2	1	0.999734	14	407	0	91	2		0	0	0	0	92	2	-13.383130	1	1	0	0		1	1	2	3	2.019752	0	0.150000	1.920000	0.155070	0.450000	0.250000	1.000000	0.440000	0.496573	0.450000	0	3.400000e-01	6.200000e-01
SMARCE1	6605	broad.mit.edu	37	17	38792702	38792702	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr17:38792702C>T	ENST00000348513.6	-	6	1094	c.314G>A	c.(313-315)cGa>cAa	p.R105Q	SMARCE1_ENST00000578044.1_Missense_Mutation_p.R35Q|SMARCE1_ENST00000544009.1_Missense_Mutation_p.R35Q|SMARCE1_ENST00000377808.4_Missense_Mutation_p.R70Q|KRT222_ENST00000476049.1_3'UTR|SMARCE1_ENST00000580419.1_Missense_Mutation_p.R70Q|SMARCE1_ENST00000400122.3_Missense_Mutation_p.R35Q|SMARCE1_ENST00000431889.2_Missense_Mutation_p.R87Q	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1			1		Breast(137;0.000812)			AGTGAGATCTCGCCACATGCC	0.408000																								0							SO:0001583	missense			ENST00000348513.6	1	1	hg19	CCDS11370.1	.	.	.	.	.	.	.	.	.	.	C	19.99	3.929060	0.73327	.	.	ENSG00000073584	ENST00000348513;ENST00000544009;ENST00000431889;ENST00000377808	D;D;D;D	0.98164	-4.76;-4.76;-4.76;-4.76	5.74	5.74	0.90152	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	D	0.96639	0.8903	L	0.49640	1.575	0.80722	D	1	P;B;P;B	0.39157	0.662;0.279;0.662;0.279	B;B;B;B	0.33620	0.167;0.027;0.098;0.027	D	0.96341	0.9251	10	0.54805	T	0.06	.	20.2825	0.98528	0.0:1.0:0.0:0.0	.	70;87;70;105	C0IMW5;B4DGM3;C0IMW4;Q969G3	.;.;.;SMCE1_HUMAN	Q	105;35;87;70	ENSP00000323967:R105Q;ENSP00000441857:R35Q;ENSP00000445370:R87Q;ENSP00000367039:R70Q	ENSP00000323967:R105Q	R	-	2	0	SMARCE1	36046228	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.701000	0.84566	2.873000	0.98535	0.561000	0.74099	CGA		TCGA-HZ-8001-01A-11D-2201-08	SMARCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257203.1	1	0	0	50	552	0	133	1	1	22	271	0	133	2		0	0	0	0	0	2	1	1.000000	48	543	0	133	2		0	0	0	0	133	2	-3.318794	1	1	0	0		1	1	2	3	2.019752	0	0.150000	1.920000	0.155070	0.990000	0.840000	1.000000	1.000000	0.984929	0.990000	1	9.700000e-01	1
TRIM37	4591	broad.mit.edu	37	17	57093064	57093064	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr17:57093064C>T	ENST00000262294.7	-	21	2742	c.2483G>A	c.(2482-2484)cGg>cAg	p.R828Q	TRIM37_ENST00000376149.3_Missense_Mutation_p.R706Q|TRIM37_ENST00000393065.2_Missense_Mutation_p.R794Q|TRIM37_ENST00000393066.3_Missense_Mutation_p.R828Q	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37			37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)				TTTACACTGCCGGTCTTCAGT	0.502000									Mulibrey Nanism															0							SO:0001583	missense	Familial Cancer Database	Perheentupa syndrome	ENST00000262294.7	1	1	hg19	CCDS32694.1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.280964	0.59758	0.0	1.16E-4	ENSG00000108395	ENST00000393066;ENST00000262294;ENST00000376149;ENST00000393065	T;T;T;T	0.31769	1.48;1.48;1.48;1.48	4.93	2.91	0.33838	.	0.162035	0.41500	N	0.000869	T	0.18002	0.0432	L	0.29908	0.895	0.39748	D	0.971849	P;P;P	0.50819	0.939;0.622;0.488	B;B;B	0.37508	0.252;0.186;0.091	T	0.03981	-1.0987	10	0.66056	D	0.02	-1.8697	7.1336	0.25515	0.1695:0.7407:0.0:0.0897	.	794;706;828	F8WEE6;O94972-2;O94972	.;.;TRI37_HUMAN	Q	828;828;706;794	ENSP00000376785:R828Q;ENSP00000262294:R828Q;ENSP00000365319:R706Q;ENSP00000376784:R794Q	ENSP00000262294:R828Q	R	-	2	0	TRIM37	54447846	0.717000	0.27966	1.000000	0.80357	0.931000	0.56810	0.594000	0.24014	0.476000	0.27440	0.313000	0.20887	CGG		TCGA-HZ-8001-01A-11D-2201-08	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445930.1	0	0	0	29	708	0	131	0	3.146748e-01	1	27	0	131	2		0	0	0	0	0	2	1	1.000000	30	683	0	124	2		0	0	0	0	131	2	-2.576094	1	1	121412	2	36	1	1	2	3	2.019752	0	0.150000	1.920000	0.155070	0.530000	0.360000	1.000000	0.520000	0.570060	0.530000	0	4.400000e-01	6.700000e-01
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000420246.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		Acetylsalicylic acid(DB00945)	GATGGGCCTCCGGTTCATGCC	0.572000	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	Mis, N, F		breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types	breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		L, E, M, O	725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	GRCh37	CM920675	TP53	M	rs11540652	SO:0001583	missense	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	ENST00000269305.4	1	1	hg19	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		TCGA-HZ-8001-01A-11D-2201-08	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	0	33	351	0	67	1	9.987399e-01	20	90	0	67	2	1	1	68	740	0	813	2	1	1.000000	33	346	0	67	2		0	0	0	0	67	2	-2.578431	1	1	121412	7	38	1	0	1	1	1.870738	1	0.150000	1.920000	0.081081	0.900000	0.680000	1.000000	0.990000	0.892024	0.900000	1	8.000000e-01	9.800000e-01
GPI	2821	broad.mit.edu	37	19	34868485	34868485	+	Silent	SNP	C	C	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr19:34868485C>T	ENST00000356487.5	+	5	721	c.480C>T	c.(478-480)tcC>tcT	p.S160S	GPI_ENST00000415930.3_Intron|GPI_ENST00000586425.1_Silent_p.S160S	NM_000175.3	NP_000166.2	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase			25	Esophageal squamous(110;0.162)				TTGGCGGCTCCGACCTGGTGA	0.597000																								0							SO:0001819	synonymous_variant			ENST00000356487.5	1	1	hg19	CCDS12437.1																																																																																				TCGA-HZ-8001-01A-11D-2201-08	GPI-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451693.3	1	0	0	24	449	0	79	1	1	50	971	0	79	2		0	0	0	0	0	2	1	1.000000	23	443	0	78	2		0	0	0	0	79	2	-2.600954	1	1	121412	1	27	1	1	2	3	2.177207	1	0.150000	1.920000	0.209302	0.730000	0.480000	1.000000	1.000000	0.744463	0.730000	0	5.900000e-01	8.900000e-01
MAP3K10	4294	broad.mit.edu	37	19	40711866	40711866	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr19:40711866C>T	ENST00000253055.3	+	5	1525	c.1237C>T	c.(1237-1239)Cgc>Tgc	p.R413C	AC118344.1_ENST00000408124.1_RNA	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10			24					ACAGGAGCAGCGCTTCCAGGA	0.672000																								0							SO:0001583	missense			ENST00000253055.3	0	1	hg19	CCDS12549.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.287897	0.80803	.	.	ENSG00000130758	ENST00000253055	T	0.75477	-0.94	4.43	3.26	0.37387	.	0.117141	0.52532	D	0.000071	T	0.77545	0.4146	M	0.64404	1.975	0.80722	D	1	D	0.69078	0.997	P	0.55455	0.776	T	0.79193	-0.1904	10	0.72032	D	0.01	.	8.8376	0.35121	0.3823:0.6177:0.0:0.0	.	413	Q02779	M3K10_HUMAN	C	413	ENSP00000253055:R413C	ENSP00000253055:R413C	R	+	1	0	MAP3K10	45403706	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.598000	0.67585	2.143000	0.66587	0.491000	0.48974	CGC		TCGA-HZ-8001-01A-11D-2201-08	MAP3K10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462552.1	0	0	0	4	58	0	24	0	5.860611e-01	1	26	0	24	2		0	0	0	0	0	2	1	0.876248	4	54	0	21	2		0	0	0	0	24	2	-8.612478	1	1	0	0		1	1	2	3	2.177207	1	0.150000	1.920000	0.209302	0.980000	0.350000	1.000000	1.000000	0.852075	0.980000	1	6.100000e-01	1
NLRP5	126206	broad.mit.edu	37	19	56545008	56545008	+	Missense_Mutation	SNP	A	A	C			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr19:56545008A>C	ENST00000390649.3	+	9	2548	c.2548A>C	c.(2548-2550)Aag>Cag	p.K850Q		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5			25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)			CACCCACCTGAAGGAAGAGGA	0.478000																								0							SO:0001583	missense			ENST00000390649.3	1	1	hg19	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	A	5.972	0.363331	0.11296	.	.	ENSG00000171487	ENST00000390649	T	0.52754	0.65	3.07	-2.48	0.06423	.	1.303020	0.05712	N	0.596209	T	0.28067	0.0692	N	0.21240	0.645	0.09310	N	1	B	0.33345	0.409	B	0.27715	0.082	T	0.12863	-1.0531	10	0.33141	T	0.24	.	5.8888	0.18896	0.2931:0.5327:0.0:0.1741	.	850	P59047	NALP5_HUMAN	Q	850	ENSP00000375063:K850Q	ENSP00000375063:K850Q	K	+	1	0	NLRP5	61236820	0.003000	0.15002	0.000000	0.03702	0.018000	0.09664	0.359000	0.20233	-0.645000	0.05458	0.454000	0.30748	AAG		TCGA-HZ-8001-01A-11D-2201-08	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	1	0	0	96	1116	0	230		0	0	0	0	230	2		0	0	0	0	0	2	1	1.000000	93	1104	0	229	2		0	0	0	0	230	2	-19.698570	1	1	0	0		1	1	2	3	2.161279	1	0.150000	1.920000	0.209302	0.990000	0.920000	1.000000	1.000000	0.995308	0.990000	1	9.900000e-01	1
LAMC1	3915	broad.mit.edu	37	1	182992997	182992997	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr1:182992997G>T	ENST00000258341.4	+	1	403	c.146G>T	c.(145-147)cGc>cTc	p.R49L		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)			76					CGGCCGCAGCGCTGCATGCCC	0.721000																								0							SO:0001583	missense			ENST00000258341.4	1	1	hg19	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	G	31	5.096975	0.94197	.	.	ENSG00000135862	ENST00000258341	T	0.32988	1.43	4.23	4.23	0.50019	Laminin, N-terminal (2);	0.142328	0.47093	U	0.000252	T	0.45175	0.1329	M	0.78456	2.415	0.80722	D	1	P;P	0.46784	0.515;0.884	B;P	0.47573	0.141;0.55	T	0.55198	-0.8178	10	0.56958	D	0.05	.	16.6058	0.84828	0.0:0.0:1.0:0.0	.	49;49	P11047;Q6NVY8	LAMC1_HUMAN;.	L	49	ENSP00000258341:R49L	ENSP00000258341:R49L	R	+	2	0	LAMC1	181259620	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.254000	0.65457	1.857000	0.53885	0.591000	0.81541	CGC		TCGA-HZ-8001-01A-11D-2201-08	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	1	0	0	15	176	0	38	0	2.045256e-02	0	3	0	38	2		0	0	0	0	0	2	1	0.999879	14	174	0	37	2		0	0	0	0	38	2	-19.711590	1	1	0	0		1	1	2	3	2.061797	0	0.150000	1.920000	0.163797	0.990000	0.640000	1.000000	1.000000	0.949271	0.990000	1	8.500000e-01	1
LRRN2	10446	broad.mit.edu	37	1	204588995	204588995	+	Silent	SNP	C	C	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr1:204588995C>T	ENST00000367175.1	-	1	2338	c.126G>A	c.(124-126)acG>acA	p.T42T	LRRN2_ENST00000367177.3_Silent_p.T42T|LRRN2_ENST00000367176.3_Silent_p.T42T|LRRN2_ENST00000496057.1_5'Flank			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2			38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)		ACGAGCGGGGCGTATACCAGG	0.667000																								0							SO:0001819	synonymous_variant			ENST00000367175.1	1	1	hg19	CCDS1448.1																																																																																				TCGA-HZ-8001-01A-11D-2201-08	LRRN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089894.1	1	0	0	13	229	0	48	0	5.716737e-01	0	34	0	48	2		0	0	0	0	0	2	1	0.999512	13	224	0	47	2		0	0	0	0	48	2	-15.735880	1	1	121408	3	31	1	1	2	3	2.061797	0	0.150000	1.920000	0.163797	0.780000	0.420000	1.000000	1.000000	0.788469	0.780000	0	5.800000e-01	1
OBSCN	84033	broad.mit.edu	37	1	228467880	228467880	+	Splice_Site	SNP	C	C	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr1:228467880C>T	ENST00000422127.1	+	29	7708	c.7664C>T	c.(7663-7665)gCg>gTg	p.A2555V	OBSCN_ENST00000284548.11_Splice_Site_p.A2555V|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000570156.2_Splice_Site_p.A2984V|OBSCN_ENST00000359599.6_Splice_Site_p.A1402V|OBSCN_ENST00000366709.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF			223		Prostate(94;0.0405)			TCTCTTGCAGCGCGGGAGGTG	0.642000																								0							SO:0001630	splice_region_variant			ENST00000422127.1	1	0	hg19	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	c	7.233	0.599675	0.13939	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599;ENST00000366706	T;T;T	0.40756	1.02;1.02;1.02	5.35	1.32	0.21799	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.418879	0.23291	N	0.049783	T	0.44871	0.1314	L	0.37507	1.11	0.80722	D	1	P;B;D	0.89917	0.836;0.023;1.0	B;B;D	0.68765	0.2;0.002;0.96	T	0.26121	-1.0112	9	.	.	.	.	5.3495	0.16028	0.2442:0.5533:0.0:0.2025	.	2555;2555;2555	Q5VST9;Q5VST9-2;Q5VST9-3	OBSCN_HUMAN;.;.	V	2555;2555;1402;254	ENSP00000284548:A2555V;ENSP00000409493:A2555V;ENSP00000352613:A1402V	.	A	+	2	0	OBSCN	226534503	0.040000	0.19996	0.012000	0.15200	0.314000	0.28054	0.351000	0.20096	-0.000000	0.14550	0.550000	0.68814	GCG		TCGA-HZ-8001-01A-11D-2201-08	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	0	43	415	0	67	0	9.296560e-03	0	2	0	67	2		0	0	0	0	0	2	1	1.000000	43	407	0	65	2		0	0	0	0	67	2	-13.803670	1	1	121170	3	37	1	1	2	3	2.061797	0	0.150000	1.920000	0.163797	0.990000	0.950000	1.000000	1.000000	0.997099	0.990000	1	9.900000e-01	1
ARID1A	8289	broad.mit.edu	37	1	27106228	27106228	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr1:27106228C>T	ENST00000324856.7	+	20	6210	c.5839C>T	c.(5839-5841)Cag>Tag	p.Q1947*	ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q1564*|ARID1A_ENST00000540690.1_Nonsense_Mutation_p.Q275*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q1730*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)		ARID1A/MAST2_ENST00000361297(2)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)			TAGCCCAGCACAGAGCCACCG	0.532000			Mis, N, F, S, D		clear cell ovarian carcinoma, RCC										Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0							SO:0001587	stop_gained			ENST00000324856.7	0	1	hg19	CCDS285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	43|43	9.895876|9.895876	0.99290|0.99290	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152;ENST00000540690|ENST00000430799	.|.	.|.	.|.	5.02|5.02	5.02|5.02	0.67125|0.67125	.|.	0.263023|.	0.39687|.	N|.	0.001300|.	.|T	.|0.70527	.|0.3234	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.68300	.|-0.5445	.|4	0.02654|.	T|.	1|.	-6.3757|-6.3757	14.6091|14.6091	0.68504|0.68504	0.1463:0.8537:0.0:0.0|0.1463:0.8537:0.0:0.0	.|.	.|.	.|.	.|.	X|I	1947;1730;1564;275|843	.|.	ENSP00000320485:Q1947X|.	Q|T	+|+	1|2	0|0	ARID1A|ARID1A	26978815|26978815	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	3.660000|3.660000	0.54496|0.54496	2.769000|2.769000	0.95229|0.95229	0.491000|0.491000	0.48974|0.48974	CAG|ACA		TCGA-HZ-8001-01A-11D-2201-08	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	0	0	0	39	944	0	181	1	8.347515e-01	5	76	0	181	2	1	9.999763e-01	11	365	0	360	2	1	1.000000	38	935	0	180	2		0	0	0	0	181	2	-4.523382	1	1	0	0		1	0	0	0	1.972451	0	0.150000	1.920000	0.129098	0.510000	0.370000	0.680000	0.520000	0.524837	0.510000	0	4.300000e-01	6.000000e-01
BAI2	576	broad.mit.edu	37	1	32222194	32222194	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr1:32222194G>C	ENST00000373658.3	-	4	585	c.244C>G	c.(244-246)Cgc>Ggc	p.R82G	BAI2_ENST00000257070.4_Missense_Mutation_p.R82G|BAI2_ENST00000398542.1_Missense_Mutation_p.R70G|MIR4254_ENST00000581063.1_RNA|BAI2_ENST00000398556.3_Missense_Mutation_p.R85G|BAI2_ENST00000398547.1_Missense_Mutation_p.R70G|BAI2_ENST00000527361.1_Missense_Mutation_p.R82G|BAI2_ENST00000398538.1_Missense_Mutation_p.R70G|BAI2_ENST00000373655.2_Missense_Mutation_p.R82G	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2			55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)			CGGTTGAAGCGCAGGTAGAGG	0.647000																								0							SO:0001583	missense			ENST00000373658.3	1	1	hg19	CCDS346.2	.	.	.	.	.	.	.	.	.	.	G	17.20	3.328325	0.60743	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000398538;ENST00000420125;ENST00000533175	T;T;T;T;T;T;T;T;T;T	0.53857	1.25;1.45;0.65;0.65;1.62;0.6;0.6;0.68;1.22;1.09	5.04	5.04	0.67666	.	0.000000	0.43579	D	0.000544	T	0.61652	0.2364	L	0.43152	1.355	0.80722	D	1	B;D;D;D;P;P	0.71674	0.015;0.998;0.965;0.995;0.831;0.941	B;D;P;P;P;P	0.65874	0.011;0.939;0.777;0.756;0.54;0.501	T	0.63967	-0.6517	10	0.87932	D	0	.	11.3219	0.49428	0.0:0.0:0.7086:0.2914	.	70;82;70;70;82;82	A2A3C3;O60241-4;O60241-3;A2A3C1;O60241-2;O60241	.;.;.;.;.;BAI2_HUMAN	G	85;70;82;82;70;82;82;70;75;116	ENSP00000381564:R85G;ENSP00000381555:R70G;ENSP00000362762:R82G;ENSP00000362759:R82G;ENSP00000381550:R70G;ENSP00000257070:R82G;ENSP00000435397:R82G;ENSP00000381548:R70G;ENSP00000410921:R75G;ENSP00000437219:R116G	ENSP00000257070:R82G	R	-	1	0	BAI2	31994781	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.598000	0.46223	2.506000	0.84524	0.462000	0.41574	CGC		TCGA-HZ-8001-01A-11D-2201-08	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	1	0	0	9	99	0	32	0	4.666519e-02	0	4	0	32	2		0	0	0	0	0	2	1	0.993893	9	95	0	31	2		0	0	0	0	32	2	-14.118600	1	1	0	0		1	0	0	0	1.972451	0	0.150000	1.920000	0.129098	0.990000	0.540000	1.000000	1.000000	0.917215	0.990000	1	7.700000e-01	1
CCDC28B	79140	broad.mit.edu	37	1	32669888	32669888	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr1:32669888G>A	ENST00000373602.5	+	4	780	c.433G>A	c.(433-435)Gat>Aat	p.D145N	IQCC_ENST00000291358.6_5'Flank|RP4-622L5.7_ENST00000421616.1_RNA|CCDC28B_ENST00000483009.1_Intron|CCDC28B_ENST00000421922.2_Missense_Mutation_p.D145N|RP4-622L5.7_ENST00000373604.4_RNA|IQCC_ENST00000537469.1_5'Flank	NM_024296.3	NP_077272.2	Q9BUN5	CC28B_HUMAN	coiled-coil domain containing 28B			10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)			GGAGGAGGACGATGAAGAGGA	0.577000																								0							SO:0001583	missense			ENST00000373602.5	1	1	hg19	CCDS354.2	.	.	.	.	.	.	.	.	.	.	G	11.04	1.520724	0.27211	.	.	ENSG00000160050	ENST00000373602;ENST00000421922	T;T	0.44881	0.99;0.91	4.5	4.5	0.54988	.	0.918054	0.09119	N	0.845946	T	0.27241	0.0668	N	0.08118	0	0.26056	N	0.981417	B	0.09022	0.002	B	0.01281	0.0	T	0.08722	-1.0708	10	0.49607	T	0.09	-26.5204	12.8892	0.58061	0.0:0.0:1.0:0.0	.	145	Q9BUN5	CC28B_HUMAN	N	145	ENSP00000362704:D145N;ENSP00000413017:D145N	ENSP00000362704:D145N	D	+	1	0	CCDC28B	32442475	0.999000	0.42202	0.824000	0.32777	0.940000	0.58332	0.923000	0.28757	2.504000	0.84457	0.561000	0.74099	GAT		TCGA-HZ-8001-01A-11D-2201-08	CCDC28B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015723.4	1	0	0	23	421	0	67	1	9.774913e-01	5	109	0	67	2		0	0	0	0	0	2	1	0.999999	23	412	0	67	2		0	0	0	0	67	2	-3.318794	1	1	0	0		1	0	0	0	1.972451	0	0.150000	1.920000	0.129098	0.670000	0.440000	0.960000	0.660000	0.688438	0.670000	0	5.400000e-01	8.200000e-01
ATPAF1	64756	broad.mit.edu	37	1	47123857	47123857	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr1:47123857A>T	ENST00000371937.4	-	4	535	c.431T>A	c.(430-432)cTc>cAc	p.L144H	ATPAF1_ENST00000574428.1_Missense_Mutation_p.L144H|ATPAF1_ENST00000532925.1_Missense_Mutation_p.L56H|ATPAF1_ENST00000542495.1_5'UTR|ATPAF1_ENST00000525633.1_5'Flank|ATPAF1_ENST00000576409.1_Missense_Mutation_p.L167H|ATPAF1_ENST00000329231.4_Missense_Mutation_p.L167H	NM_022745.4	NP_073582.3	Q5TC12	ATPF1_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 1			8	Acute lymphoblastic leukemia(166;0.155)				GATTGAACTGAGAGTCTTGAA	0.323000													Melanoma(138;107 1777 21672 30337 52312)											0							SO:0001583	missense			ENST00000371937.4	1	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.7|20.7	4.040846|4.040846	0.75732|0.75732	.|.	.|.	ENSG00000123472|ENSG00000123472	ENST00000371937;ENST00000526821;ENST00000329231;ENST00000532925|ENST00000534216	D|.	0.85258|.	-1.96|.	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.80297|0.80297	0.4597|0.4597	M|M	0.90082|0.90082	3.085|3.085	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;1.0|.	D|D	0.84033|0.84033	0.0360|0.0360	10|5	0.87932|.	D|.	0|.	-11.4791|-11.4791	13.1214|13.1214	0.59329|0.59329	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	56;144;144|.	B7Z7I6;A8MRA7;Q5TC12|.	.;.;ATPF1_HUMAN|.	H|T	144;58;144;56|16	ENSP00000361005:L144H|.	ENSP00000330685:L144H|.	L|S	-|-	2|1	0|0	ATPAF1|ATPAF1	46896444|46896444	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	4.986000|4.986000	0.63851|0.63851	2.285000|2.285000	0.76669|0.76669	0.533000|0.533000	0.62120|0.62120	CTC|TCA		TCGA-HZ-8001-01A-11D-2201-08	ATPAF1-201	KNOWN	basic	protein_coding	protein_coding		0	0	0	17	187	0	43	1	9.897741e-01	13	72	0	43	2		0	0	0	0	0	2	1	0.999965	17	182	0	43	2		0	0	0	0	43	2	-19.999650	1	1	0	0		1	0	0	0	1.972451	0	0.150000	1.920000	0.129098	0.990000	0.660000	1.000000	1.000000	0.946115	0.990000	1	8.400000e-01	1
PTGIS	5740	broad.mit.edu	37	20	48130848	48130848	+	Missense_Mutation	SNP	C	C	T	rs13306027		TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr20:48130848C>T	ENST00000244043.4	-	7	969	c.940G>A	c.(940-942)Gag>Aag	p.E314K	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase			27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)	Epoprostenol(DB01240)|Phenylbutazone(DB00812)	AGGATACTCTCGAGCTCTCCG	0.587000																								0							SO:0001583	missense			ENST00000244043.4	1	1	hg19	CCDS13419.1	.	.	.	.	.	.	.	.	.	.	C	10.71	1.425967	0.25726	.	.	ENSG00000124212	ENST00000244043	T	0.67698	-0.28	4.1	2.07	0.26955	.	0.753921	0.12015	N	0.507523	T	0.52741	0.1753	L	0.55213	1.73	0.09310	N	1	B	0.31705	0.336	B	0.30646	0.118	T	0.40194	-0.9576	10	0.05959	T	0.93	-9.1386	6.6996	0.23217	0.0:0.7109:0.1818:0.1073	.	314	Q16647	PTGIS_HUMAN	K	314	ENSP00000244043:E314K	ENSP00000244043:E314K	E	-	1	0	PTGIS	47564255	0.014000	0.17966	0.018000	0.16275	0.060000	0.15804	0.192000	0.17096	0.282000	0.22254	-0.305000	0.09177	GAG		TCGA-HZ-8001-01A-11D-2201-08	PTGIS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080496.2	1	0	1	38	345	0	66	0	9.999358e-01	1	132	0	66	2		0	0	0	0	0	2	1	1.000000	38	343	0	66	2		0	0	0	0	66	2	-3.142702	1	1	121412	9	42	1	1	2	3	2.036933	0	0.150000	1.920000	0.158832	0.990000	0.970000	1.000000	1.000000	0.997941	0.990000	1	9.900000e-01	1
ADAMTS5	11096	broad.mit.edu	37	21	28338459	28338459	+	Silent	SNP	G	G	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr21:28338459G>A	ENST00000284987.5	-	1	373	c.252C>T	c.(250-252)ggC>ggT	p.G84G		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5			72					CCACCTTGCCGCCGCCGGAGT	0.697000													Esophageal Squamous(53;683 1080 10100 14424 45938)											0							SO:0001819	synonymous_variant			ENST00000284987.5	1	1	hg19	CCDS13579.1																																																																																				TCGA-HZ-8001-01A-11D-2201-08	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1	1	0	0	23	510	0	109	0	0	0	1	0	109	2		0	0	0	0	0	2	1	0.999999	21	503	0	106	2		0	0	0	0	109	2	-3.279060	1	1	0	0		1	0	0	0	1.958296	0	0.150000	1.920000	0.122354	0.550000	0.360000	0.790000	0.550000	0.571477	0.550000	0	4.500000e-01	6.800000e-01
TTN	7273	broad.mit.edu	37	2	179574354	179574354	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr2:179574354G>T	ENST00000591111.1	-	97	27965	c.27741C>A	c.(27739-27741)taC>taA	p.Y9247*	TTN_ENST00000342992.6_Nonsense_Mutation_p.Y8320*|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Nonsense_Mutation_p.Y9564*|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		CTTTGCATGTGTACAAACCAG	0.438000																								0							SO:0001587	stop_gained			ENST00000591111.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	59	39.972864	0.99985	.	.	ENSG00000155657	ENST00000342992	.	.	.	5.91	3.13	0.36017	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	11.527	0.50586	0.2349:0.0:0.7651:0.0	.	.	.	.	X	8320	.	ENSP00000343764:Y8320X	Y	-	3	2	TTN	179282599	1.000000	0.71417	1.000000	0.80357	0.683000	0.39861	1.422000	0.34826	1.508000	0.48769	0.655000	0.94253	TAC		TCGA-HZ-8001-01A-11D-2201-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	0	24	329	0	50		0	0	0	0	50	2		0	0	0	0	0	2	1	1.000000	24	328	0	50	2		0	0	0	0	50	2	-7.199919	1	1	0	0		1						0.150000	1.920000									0	0
TRIP12	9320	broad.mit.edu	37	2	230660000	230660000	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr2:230660000G>A	ENST00000283943.5	-	25	3816	c.3638C>T	c.(3637-3639)gCa>gTa	p.A1213V	TRIP12_ENST00000389045.3_Missense_Mutation_p.A943V|TRIP12_ENST00000389044.4_Missense_Mutation_p.A1261V	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12			87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)			CAACAAAGGTGCATTACCCAC	0.408000																								0							SO:0001583	missense			ENST00000283943.5	1	1	hg19	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.941825	0.53079	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	T;T;T	0.47177	0.86;1.18;0.85	5.74	5.74	0.90152	.	0.144194	0.64402	D	0.000009	T	0.39253	0.1071	L	0.29908	0.895	0.80722	D	1	B;B;B	0.23058	0.079;0.003;0.079	B;B;B	0.26517	0.07;0.006;0.07	T	0.13791	-1.0496	10	0.35671	T	0.21	.	15.4109	0.74917	0.0:0.1385:0.8615:0.0	.	943;1261;1213	Q14CF1;Q14CA3;Q14669	.;.;TRIPC_HUMAN	V	1213;943;1261	ENSP00000283943:A1213V;ENSP00000373697:A943V;ENSP00000373696:A1261V	ENSP00000283943:A1213V	A	-	2	0	TRIP12	230368244	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.541000	0.60670	2.712000	0.92718	0.650000	0.86243	GCA		TCGA-HZ-8001-01A-11D-2201-08	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	1	0	0	25	300	0	65	1	9.204537e-01	5	49	0	65	2		0	0	0	0	0	2	1	1.000000	25	296	0	65	2		0	0	0	0	65	2	-3.318794	1	1	0	0		1	0	1	1	2.007643	0	0.150000	1.920000	0.145514	0.990000	0.680000	1.000000	1.000000	0.940094	0.990000	1	8.300000e-01	1
GALNT14	79623	broad.mit.edu	37	2	31178784	31178784	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr2:31178784G>A	ENST00000349752.5	-	5	1165	c.526C>T	c.(526-528)Cgg>Tgg	p.R176W	GALNT14_ENST00000324589.5_Missense_Mutation_p.R181W|GALNT14_ENST00000356174.3_Missense_Mutation_p.R143W|GALNT14_ENST00000420311.2_Missense_Mutation_p.R141W|GALNT14_ENST00000486564.1_5'Flank|GALNT14_ENST00000406653.1_Missense_Mutation_p.R156W	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14			43	Acute lymphoblastic leukemia(172;0.155)				CTACCTTGCCGTTCATTATTG	0.522000																								0							SO:0001583	missense			ENST00000349752.5	1	0	hg19	CCDS1773.2	.	.	.	.	.	.	.	.	.	.	G	19.81	3.896951	0.72639	.	.	ENSG00000158089	ENST00000349752;ENST00000324589;ENST00000406653;ENST00000356174;ENST00000420311;ENST00000430167	T;T;T;T;T;T	0.60299	0.2;0.2;0.2;0.2;0.2;0.2	5.28	4.38	0.52667	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	D	0.85737	0.5766	H	0.99391	4.545	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;1.0;1.0	D	0.90544	0.4504	10	0.87932	D	0	.	12.6946	0.56997	0.0:0.0:0.575:0.425	.	141;141;143;181;176;156	F5H263;B7Z5C5;Q96FL9-2;Q96FL9-3;Q96FL9;B3KV89	.;.;.;.;GLT14_HUMAN;.	W	176;181;156;143;141;143	ENSP00000288988:R176W;ENSP00000314500:R181W;ENSP00000385435:R156W;ENSP00000348497:R143W;ENSP00000415514:R141W;ENSP00000406399:R143W	ENSP00000314500:R181W	R	-	1	2	GALNT14	31032288	1.000000	0.71417	0.800000	0.32199	0.939000	0.58152	2.181000	0.42547	1.195000	0.43115	0.561000	0.74099	CGG		TCGA-HZ-8001-01A-11D-2201-08	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157264.1	1	0	0	133	1441	0	269	0	5.914075e-01	0	23	0	269	2		0	0	0	0	0	2	1	1.000000	132	1417	0	264	2		0	0	0	0	269	2	-20.000000	1	1	121412	1	36	1	1	2	3	2.032373	0	0.150000	1.920000	0.157582	0.990000	0.960000	1.000000	1.000000	0.997812	0.990000	1	9.900000e-01	1
FSHR	2492	broad.mit.edu	37	2	49190896	49190896	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr2:49190896G>T	ENST00000406846.2	-	10	1183	c.1064C>A	c.(1063-1065)cCa>cAa	p.P355Q	FSHR_ENST00000304421.4_Missense_Mutation_p.P329Q|FSHR_ENST00000346173.3_Missense_Mutation_p.P293Q|FSHR_ENST00000541117.1_Missense_Mutation_p.P91Q	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor			73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)	Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	ATCTTCACATGGGTTGAATGC	0.453000									Gonadal Dysgenesis, 46 XX															0							SO:0001583	missense	Familial Cancer Database		ENST00000406846.2	1	1	hg19	CCDS1843.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.945958	0.73672	.	.	ENSG00000170820	ENST00000406846;ENST00000346173;ENST00000304421;ENST00000541117	D;D;D;D	0.91686	-2.89;-2.89;-2.89;-2.89	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.97470	0.9172	H	0.96048	3.76	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.98525	1.0625	9	.	.	.	.	17.7464	0.88422	0.0:0.0:1.0:0.0	.	329;293;355	Q05AH0;G5E967;P23945	.;.;FSHR_HUMAN	Q	355;293;329;91	ENSP00000384708:P355Q;ENSP00000333908:P293Q;ENSP00000306780:P329Q;ENSP00000444172:P91Q	.	P	-	2	0	FSHR	49044400	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.657000	0.98554	2.673000	0.90976	0.561000	0.74099	CCA		TCGA-HZ-8001-01A-11D-2201-08	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2	1	0	0	41	417	0	89		0	0	0	0	89	2		0	0	0	0	0	2	1	1.000000	41	412	0	88	2		0	0	0	0	89	2	-2.402340	0	1	0	0		1	1	2	3	2.032373	0	0.150000	1.920000	0.157582	0.990000	0.880000	1.000000	1.000000	0.992700	0.990000	1	9.900000e-01	1
ACTG2	72	broad.mit.edu	37	2	74135852	74135852	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr2:74135852C>T	ENST00000409624.1	+	5	951	c.308C>T	c.(307-309)cCc>cTc	p.P103L	ACTG2_ENST00000345517.3_Missense_Mutation_p.P103L|ACTG2_ENST00000409731.3_Missense_Mutation_p.P60L			P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric			18					GAAGAGCACCCCACCCTGCTC	0.527000																								0							SO:0001583	missense			ENST00000409624.1	1	1	hg19	CCDS1930.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.932979	0.73442	.	.	ENSG00000163017	ENST00000409731;ENST00000345517;ENST00000442912;ENST00000409624	D;D;D;D	0.97959	-4.63;-4.63;-3.69;-4.63	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	D	0.99302	0.9756	H	0.98370	4.215	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.91635	0.978;0.999	D	0.98494	1.0611	10	0.87932	D	0	.	17.4422	0.87568	0.0:1.0:0.0:0.0	.	60;103	E9PG30;P63267	.;ACTH_HUMAN	L	60;103;103;103	ENSP00000386929:P60L;ENSP00000295137:P103L;ENSP00000410020:P103L;ENSP00000386857:P103L	ENSP00000295137:P103L	P	+	2	0	ACTG2	73989360	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.651000	0.83577	2.724000	0.93272	0.462000	0.41574	CCC		TCGA-HZ-8001-01A-11D-2201-08	ACTG2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328086.1	0	0	0	11	300	0	75	0	9.999084e-01	0	488	0	75	2		0	0	0	0	0	2	1	0.998440	11	301	0	75	2		0	0	0	0	75	2	-2.722986	1	1	0	0		1	1	2	3	2.032373	0	0.150000	1.920000	0.157582	0.500000	0.260000	1.000000	0.470000	0.554462	0.500000	0	3.600000e-01	7.300000e-01
PRR23B	389151	broad.mit.edu	37	3	138738751	138738751	+	Silent	SNP	C	C	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr3:138738751C>T	ENST00000329447.5	-	1	1017	c.753G>A	c.(751-753)ccG>ccA	p.P251P	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B			29					GAGGGCGTTCCGGGAGCGGCG	0.667000																								0							SO:0001819	synonymous_variant			ENST00000329447.5	1	1	hg19	CCDS33868.1																																																																																				TCGA-HZ-8001-01A-11D-2201-08	PRR23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361501.1	1	0	0	14	223	0	56		0	0	0	0	56	2		0	0	0	0	0	2	1	0.999150	13	181	0	44	2		0	0	0	0	56	2	-3.020362	1	1	121012	1	36	1	0	0	0	1.963010	0	0.150000	1.920000	0.125064	0.760000	0.440000	1.000000	1.000000	0.771772	0.760000	0	5.800000e-01	9.700000e-01
ATR	545	broad.mit.edu	37	3	142185227	142185227	+	Missense_Mutation	SNP	T	T	G			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr3:142185227T>G	ENST00000350721.4	-	40	6957	c.6836A>C	c.(6835-6837)aAc>aCc	p.N2279T	RP11-383G6.3_ENST00000460977.1_RNA|ATR_ENST00000383101.3_Missense_Mutation_p.N2215T	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase			122					GCTAGCATGGTTAGCATGGGT	0.368000								Other conserved DNA damage response genes																0							SO:0001583	missense			ENST00000350721.4	1	1	hg19	CCDS3124.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.29|17.29	3.351061|3.351061	0.61183|0.61183	.|.	.|.	ENSG00000175054|ENSG00000175054	ENST00000350721;ENST00000383101|ENST00000513291	T;T|.	0.80566|.	-1.39;-1.39|.	5.43|5.43	5.43|5.43	0.79202|0.79202	Protein kinase-like domain (1);|.	0.188475|.	0.31199|.	U|.	0.008062|.	T|.	0.58652|.	0.2137|.	L|L	0.38175|0.38175	1.15|1.15	0.50039|0.50039	D|D	0.999842|0.999842	B|.	0.19445|.	0.036|.	B|.	0.12837|.	0.008|.	T|.	0.55509|.	-0.8130|.	10|.	0.21540|.	T|.	0.41|.	-3.5943|-3.5943	15.4542|15.4542	0.75299|0.75299	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	2279|.	Q13535|.	ATR_HUMAN|.	T|Y	2279;2215|125	ENSP00000343741:N2279T;ENSP00000372581:N2215T|.	ENSP00000343741:N2279T|.	N|X	-|-	2|3	0|2	ATR|ATR	143667917|143667917	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.969000|0.969000	0.65631|0.65631	7.965000|7.965000	0.87945|0.87945	2.055000|2.055000	0.61198|0.61198	0.477000|0.477000	0.44152|0.44152	AAC|TAA		TCGA-HZ-8001-01A-11D-2201-08	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	1	0	1	45	401	0	81	1	9.303734e-01	2	40	0	81	2		0	0	0	0	0	2	1	1.000000	45	397	0	80	2		0	0	0	0	81	2	-15.411920	1	1	0	0		1	0	0	0	1.963010	0	0.150000	1.920000	0.125064	0.990000	0.960000	1.000000	1.000000	0.997720	0.990000	1	9.900000e-01	1
MED12L	116931	broad.mit.edu	37	3	151129293	151129293	+	Silent	SNP	G	G	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr3:151129293G>A	ENST00000474524.1	+	39	6071	c.6033G>A	c.(6031-6033)caG>caA	p.Q2011Q	MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like			128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		CTGGCTCTCAGAGGTGATACA	0.478000																								0							SO:0001819	synonymous_variant			ENST00000474524.1	1	1	hg19	CCDS33876.1																																																																																				TCGA-HZ-8001-01A-11D-2201-08	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	1	0	0	37	399	0	69		0	0	0	0	69	2		0	0	0	0	0	2	1	1.000000	38	388	0	65	2		0	0	0	0	69	2	-3.318794	1	1	0	0		1	0	0	0	1.963010	0	0.150000	1.920000	0.125064	0.990000	0.780000	1.000000	1.000000	0.973822	0.990000	1	9.300000e-01	1
SFRP2	6423	broad.mit.edu	37	4	154709592	154709592	+	Silent	SNP	G	G	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr4:154709592G>A	ENST00000274063.4	-	1	680	c.396C>T	c.(394-396)ttC>ttT	p.F132F		NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2			16	all_hematologic(180;0.093)	Renal(120;0.117)			AGGGGAAGCCGAAGGCGGACA	0.662000																								0							SO:0001819	synonymous_variant			ENST00000274063.4	1	1	hg19	CCDS34082.1																																																																																				TCGA-HZ-8001-01A-11D-2201-08	SFRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365296.1	0	0	0	29	682	0	113	1	1	3	7880	0	113	2		0	0	0	0	0	2	1	1.000000	29	671	0	108	2		0	0	0	0	113	2	-20.000000	1	1	0	0		1	1	2	3	2.055290	0	0.150000	1.920000	0.162562	0.570000	0.380000	1.000000	0.550000	0.631201	0.570000	0	4.700000e-01	8.300000e-01
PGM2	55276	broad.mit.edu	37	4	37863199	37863199	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr4:37863199C>A	ENST00000381967.4	+	14	1905	c.1805C>A	c.(1804-1806)cCa>cAa	p.P602Q	PGM2_ENST00000537241.1_Missense_Mutation_p.P442Q	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2			19					TTTTTCCAGCCACAGAAGTAC	0.403000																								0							SO:0001583	missense			ENST00000381967.4	1	1	hg19	CCDS3443.1	.	.	.	.	.	.	.	.	.	.	C	32	5.182832	0.94885	.	.	ENSG00000169299	ENST00000381967;ENST00000537241	T;T	0.47177	0.85;1.71	6.14	6.14	0.99180	.	0.047041	0.85682	D	0.000000	T	0.77579	0.4151	M	0.91561	3.22	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.80692	-0.1269	10	0.87932	D	0	-14.225	20.8597	0.99761	0.0:1.0:0.0:0.0	.	602	Q96G03	PGM2_HUMAN	Q	602;442	ENSP00000371393:P602Q;ENSP00000437342:P442Q	ENSP00000371393:P602Q	P	+	2	0	PGM2	37539594	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.331000	0.79192	2.937000	0.99478	0.650000	0.86243	CCA		TCGA-HZ-8001-01A-11D-2201-08	PGM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215079.2	1	0	1	56	619	0	146	1	9.971442e-01	19	79	0	146	2		0	0	0	0	0	2	1	1.000000	55	589	0	145	2		0	0	0	0	146	2	-2.920853	1	1	0	0		1	1	2	3	2.055290	0	0.150000	1.920000	0.162562	0.990000	0.860000	1.000000	1.000000	0.989236	0.990000	1	9.900000e-01	1
TLR6	10333	broad.mit.edu	37	4	38830874	38830874	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr4:38830874A>G	ENST00000381950.1	-	1	286	c.221T>C	c.(220-222)tTt>tCt	p.F74S	TLR6_ENST00000436693.2_Missense_Mutation_p.F74S			Q9Y2C9	TLR6_HUMAN	toll-like receptor 6			22					CTCTGATAGAAAGCTCATGTC	0.378000																								0							SO:0001583	missense			ENST00000381950.1	1	1	hg19	CCDS3446.1	.	.	.	.	.	.	.	.	.	.	A	3.403	-0.121850	0.06838	.	.	ENSG00000174130	ENST00000436693;ENST00000381950;ENST00000508542;ENST00000508254;ENST00000514655	T;T;T;T	0.02140	4.43;4.43;4.43;4.43	5.55	-1.15	0.09709	.	0.635810	0.15748	N	0.246554	T	0.01061	0.0035	N	0.20483	0.58	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47484	-0.9114	10	0.05620	T	0.96	.	0.4819	0.00549	0.2689:0.1258:0.2356:0.3697	.	74	Q9Y2C9	TLR6_HUMAN	S	74	ENSP00000389600:F74S;ENSP00000371376:F74S;ENSP00000424718:F74S;ENSP00000423326:F74S	ENSP00000371376:F74S	F	-	2	0	TLR6	38507269	0.270000	0.24152	0.480000	0.27341	0.606000	0.37113	0.320000	0.19540	0.034000	0.15491	0.459000	0.35465	TTT		TCGA-HZ-8001-01A-11D-2201-08	TLR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250431.1	1	0	0	21	265	0	74	0	6.079393e-03	0	2	0	74	2		0	0	0	0	0	2	1	0.999998	21	260	0	73	2		0	0	0	0	74	2	-20.000000	1	1	0	0		1	1	2	3	2.055290	0	0.150000	1.920000	0.162562	0.990000	0.650000	1.000000	1.000000	0.936667	0.990000	1	8.200000e-01	1
ZNF721	170960	broad.mit.edu	37	4	435583	435583	+	Missense_Mutation	SNP	T	T	G			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr4:435583T>G	ENST00000338977.5	-	2	2685	c.2637A>C	c.(2635-2637)aaA>aaC	p.K879N	ZNF721_ENST00000507078.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000511833.2_Missense_Mutation_p.K891N			Q8TF20	ZN721_HUMAN	zinc finger protein 721			33					ACGTGTAGGGTTTCTCTCCAG	0.383000																								0							SO:0001583	missense			ENST00000338977.5	1	1	hg19		.	.	.	.	.	.	.	.	.	.	T	9.545	1.114493	0.20795	.	.	ENSG00000182903	ENST00000338977;ENST00000511833	T;T	0.26067	1.76;1.76	0.539	0.539	0.17156	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.44871	0.1314	M	0.85710	2.77	0.24306	N	0.995109	D;D;D	0.67145	0.996;0.996;0.995	P;P;P	0.60541	0.828;0.876;0.804	T	0.21793	-1.0235	9	0.62326	D	0.03	.	5.2995	0.15770	0.0:1.0E-4:0.0:0.9999	.	879;891;891	Q8TF20;D9N162;Q8TF20-2	ZN721_HUMAN;.;.	N	879;891	ENSP00000340524:K879N;ENSP00000428878:K891N	ENSP00000340524:K879N	K	-	3	2	ZNF721	425583	0.275000	0.24201	0.151000	0.22473	0.126000	0.20510	-0.123000	0.10611	0.440000	0.26502	0.172000	0.16884	AAA		TCGA-HZ-8001-01A-11D-2201-08	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000357939.1	0	0	0	8	179	0	33	0	2.208867e-02	0	5	0	33	2		0	0	0	0	0	2	1	0.988901	8	175	0	33	2		0	0	0	0	33	2	-3.861498	1	1	0	0		1	1	2	3	2.055290	0	0.150000	1.920000	0.162562	0.640000	0.290000	1.000000	1.000000	0.678668	0.640000	0	4.400000e-01	1
C4orf40	0	broad.mit.edu	37	4	71024100	71024100	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr4:71024100T>C	ENST00000344526.5	+	3	320	c.131T>C	c.(130-132)aTa>aCa	p.I44T	C4orf40_ENST00000502441.2_Intron|C4orf40_ENST00000502294.1_Missense_Mutation_p.I44T	NM_214711.3	NP_999876.2	Q6MZM9	PRR27_HUMAN				12					CCTTATGGCATACGGAATTTA	0.438000																								0							SO:0001583	missense			ENST00000344526.5	1	1	hg19	CCDS3535.1	.	.	.	.	.	.	.	.	.	.	T	9.190	1.025685	0.19512	.	.	ENSG00000187533	ENST00000502294;ENST00000344526	T;T	0.34472	1.36;1.36	1.85	-2.75	0.05914	.	.	.	.	.	T	0.21022	0.0506	N	0.14661	0.345	0.09310	N	1	P	0.41041	0.736	P	0.47251	0.542	T	0.18366	-1.0339	9	0.08837	T	0.75	2.5581	5.9415	0.19196	0.0:0.5263:0.0:0.4737	.	44	Q6MZM9	CD040_HUMAN	T	44	ENSP00000426249:I44T;ENSP00000343172:I44T	ENSP00000343172:I44T	I	+	2	0	C4orf40	71058689	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.906000	0.00701	-0.643000	0.05473	-0.363000	0.07495	ATA		TCGA-HZ-8001-01A-11D-2201-08	C4orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251558.1	1	0	0	49	849	0	161		0	0	0	0	161	2		0	0	0	0	0	2	1	1.000000	48	832	0	161	2		0	0	0	0	161	2	-7.786283	1	1	0	0		1	1	2	3	2.055290	0	0.150000	1.920000	0.162562	0.760000	0.550000	1.000000	0.740000	0.785400	0.760000	0	6.500000e-01	1
ENAM	10117	broad.mit.edu	37	4	71510452	71510452	+	Silent	SNP	A	A	G			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr4:71510452A>G	ENST00000396073.3	+	9	3590	c.3309A>G	c.(3307-3309)gaA>gaG	p.E1103E	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin			6			Lung(101;0.235)		CTACTGAGGAACAATTTAAGA	0.428000																								0							SO:0001819	synonymous_variant			ENST00000396073.3	1	1	hg19	CCDS3544.2																																																																																				TCGA-HZ-8001-01A-11D-2201-08	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	1	0	0	42	421	0	82	0	8.731367e-03	0	2	0	82	2		0	0	0	0	0	2	1	1.000000	41	415	0	82	2		0	0	0	0	82	2	-12.612160	1	1	0	0		1	1	2	3	2.055290	0	0.150000	1.920000	0.162562	0.990000	0.910000	1.000000	1.000000	0.994900	0.990000	1	9.900000e-01	1
HELQ	113510	broad.mit.edu	37	4	84375061	84375061	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr4:84375061T>C	ENST00000295488.3	-	2	497	c.335A>G	c.(334-336)gAt>gGt	p.D112G	MRPS18C_ENST00000507349.1_5'Flank|MRPS18C_ENST00000295491.4_5'Flank|HELQ_ENST00000510985.1_Missense_Mutation_p.D112G|MRPS18C_ENST00000507019.1_5'Flank|HELQ_ENST00000440639.2_5'UTR	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like			38					AGTAAAGCTATCATAGTCACC	0.378000								Other identified genes with known or suspected DNA repair function																0							SO:0001583	missense			ENST00000295488.3	1	1	hg19	CCDS3603.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.634374	0.87660	.	.	ENSG00000163312	ENST00000295488;ENST00000510985	T;T	0.75367	-0.37;-0.93	5.13	5.13	0.70059	.	0.062767	0.64402	D	0.000015	D	0.83982	0.5372	M	0.61703	1.905	0.47476	D	0.999433	D;D;D;D	0.89917	0.994;0.999;1.0;0.982	P;P;D;P	0.79108	0.759;0.846;0.992;0.661	D	0.85759	0.1348	10	0.72032	D	0.01	-26.4433	15.1068	0.72326	0.0:0.0:0.0:1.0	.	112;112;75;112	E3W980;E3W982;Q8TDG4-2;Q8TDG4	.;.;.;HELQ_HUMAN	G	112	ENSP00000295488:D112G;ENSP00000424539:D112G	ENSP00000295488:D112G	D	-	2	0	HELQ	84594085	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.946000	0.63576	2.149000	0.67028	0.533000	0.62120	GAT		TCGA-HZ-8001-01A-11D-2201-08	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252810.1	1	0	0	42	775	0	193	1	3.791377e-01	2	23	0	193	2		0	0	0	0	0	2	1	1.000000	40	757	0	192	2		0	0	0	0	193	2	-6.502885	1	1	0	0		1	1	2	3	2.055290	0	0.150000	1.920000	0.162562	0.720000	0.510000	1.000000	0.700000	0.750434	0.720000	0	6.000000e-01	9.700000e-01
FBN2	2201	broad.mit.edu	37	5	127866347	127866347	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr5:127866347C>T	ENST00000508053.1	-	9	1351	c.377G>A	c.(376-378)cGt>cAt	p.R126H	FBN2_ENST00000262464.4_Missense_Mutation_p.R126H|FBN2_ENST00000508989.1_Intron			P35556	FBN2_HUMAN	fibrillin 2			197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)		CATGTTAGGACGGGAACAAAA	0.338000																								0							SO:0001583	missense			ENST00000508053.1	1	1	hg19	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	19.45	3.829221	0.71258	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000502468	D;D;T	0.85773	-2.03;-2.03;0.12	4.59	3.71	0.42584	.	0.000000	0.64402	D	0.000003	D	0.91102	0.7199	M	0.72118	2.19	0.53005	D	0.999961	D;D	0.89917	1.0;0.995	D;P	0.83275	0.996;0.719	D	0.91917	0.5544	10	0.59425	D	0.04	.	14.6579	0.68847	0.1472:0.8528:0.0:0.0	.	126;126	E9PHW4;P35556	.;FBN2_HUMAN	H	126	ENSP00000262464:R126H;ENSP00000424571:R126H;ENSP00000424753:R126H	ENSP00000262464:R126H	R	-	2	0	FBN2	127894246	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.243000	0.78219	1.511000	0.48818	0.655000	0.94253	CGT		TCGA-HZ-8001-01A-11D-2201-08	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	1	0	0	25	309	0	58		0	0	0	0	58	2		0	0	0	0	0	2	1	1.000000	25	305	0	58	2		0	0	0	0	58	2	-8.106028	1	1	121410	14	42	1	1	2	3	2.051179	0	0.150000	1.920000	0.161322	0.990000	0.680000	1.000000	1.000000	0.946249	0.990000	1	8.500000e-01	1
SIM1	6492	broad.mit.edu	37	6	100896021	100896021	+	Splice_Site	SNP	C	C	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr6:100896021C>T	ENST00000369208.3	-	8	1633		c.e8+1		SIM1_ENST00000262901.4_Splice_Site			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1			79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)			TGGCGCCTTACGCAAATGGTG	0.617000																								0							SO:0001630	splice_region_variant			ENST00000369208.3	0	1	hg19	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.640537	0.29157	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	.	.	.	5.19	4.31	0.51392	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0421	0.71799	0.1433:0.8567:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SIM1	101002742	1.000000	0.71417	0.989000	0.46669	0.001000	0.01503	7.487000	0.81328	1.163000	0.42636	-0.181000	0.13052	.		TCGA-HZ-8001-01A-11D-2201-08	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	0	0	0	5	95	0	31		0	0	0	0	31	2		0	0	0	0	0	2	1	0.937534	5	94	0	31	2		0	0	0	0	31	2	-8.754000	1	1	0	0		1	0	1	1	1.875206	1	0.150000	1.920000	0.081081	0.580000	0.230000	0.950000	0.560000	0.599108	0.580000	0	3.800000e-01	8.100000e-01
MDGA1	266727	broad.mit.edu	37	6	37631799	37631799	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr6:37631799G>A	ENST00000434837.3	-	2	1329	c.151C>T	c.(151-153)Cgg>Tgg	p.R51W	MDGA1_ENST00000297153.7_Missense_Mutation_p.R51W|MDGA1_ENST00000505425.1_Missense_Mutation_p.R51W	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1			38					TCCCCCTCCCGGATGGTGTAG	0.637000																								0							SO:0001583	missense			ENST00000434837.3	1	1	hg19	CCDS47417.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.935517	0.73442	.	.	ENSG00000112139	ENST00000434837;ENST00000297153;ENST00000505425	T;T;T	0.49432	0.78;0.78;0.78	5.25	3.45	0.39498	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.160511	0.28796	N	0.014104	T	0.55273	0.1910	M	0.79258	2.445	0.46725	D	0.999177	D	0.89917	1.0	D	0.73380	0.98	T	0.59279	-0.7484	10	0.56958	D	0.05	.	9.6088	0.39650	0.0745:0.0:0.7847:0.1408	.	51	Q8NFP4	MDGA1_HUMAN	W	51	ENSP00000402584:R51W;ENSP00000297153:R51W;ENSP00000422042:R51W	ENSP00000297153:R51W	R	-	1	2	MDGA1	37739777	1.000000	0.71417	1.000000	0.80357	0.743000	0.42351	4.461000	0.60115	0.587000	0.29643	-0.150000	0.13652	CGG		TCGA-HZ-8001-01A-11D-2201-08	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040419.3	1	0	0	48	430	0	81	0	1.558782e-01	1	6	0	81	2		0	0	0	0	0	2	1	1.000000	48	423	0	78	2		0	0	0	0	81	2	-2.806910	1	1	121096	2	36	1	0	1	1	1.875206	1	0.150000	1.920000	0.081081	0.940000	0.790000	1.000000	0.990000	0.940224	0.940000	1	8.800000e-01	9.900000e-01
RELN	5649	broad.mit.edu	37	7	103124188	103124188	+	Missense_Mutation	SNP	C	C	T	rs115035120	by1000genomes	TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr7:103124188C>T	ENST00000428762.1	-	62	10252	c.10093G>A	c.(10093-10095)Gtc>Atc	p.V3365I	RN7SKP86_ENST00000410454.1_RNA|RELN_ENST00000473945.1_5'UTR|RELN_ENST00000424685.2_Missense_Mutation_p.V3365I|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Missense_Mutation_p.V3365I	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	p.V3365I(1)		227					CCGTTGTTGACGCTGTATTGC	0.552000													NSCLC(146;835 1944 15585 22231 52158)											1	Substitution - Missense(1)						SO:0001583	missense			ENST00000428762.1	1	1	hg19	CCDS47680.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	13.12	2.142400	0.37825	0.0	9.3E-4	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	T;T;T	0.21932	1.98;1.98;1.98	5.87	3.1	0.35709	.	0.145479	0.45606	N	0.000351	T	0.28400	0.0702	L	0.43152	1.355	0.39557	D	0.969078	B;D	0.67145	0.347;0.996	B;P	0.60415	0.054;0.874	T	0.03597	-1.1021	10	0.22706	T	0.39	.	8.8648	0.35280	0.1229:0.7486:0.0:0.1285	.	3365;3365	P78509-2;P78509	.;RELN_HUMAN	I	3365;3365;3365;882;3365	ENSP00000392423:V3365I;ENSP00000345694:V3365I;ENSP00000388446:V3365I	ENSP00000345694:V3365I	V	-	1	0	RELN	102911424	0.747000	0.28283	0.782000	0.31804	0.737000	0.42083	1.384000	0.34396	0.393000	0.25203	0.655000	0.94253	GTC		TCGA-HZ-8001-01A-11D-2201-08	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	1	0	0	54	908	0	161	0	2.937466e-02	0	5	0	161	2		0	0	0	0	0	2	1	1.000000	52	893	0	160	2		0	0	0	0	161	2	-8.041069	1	1	121412	112	54	1						0.150000	1.920000									0	0
NUP205	23165	broad.mit.edu	37	7	135258466	135258466	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr7:135258466G>T	ENST00000285968.6	+	3	262	c.236G>T	c.(235-237)gGt>gTt	p.G79V	NUP205_ENST00000440390.2_5'UTR|NUP205_ENST00000489493.1_3'UTR	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa			93					GCCATTCAGGGTCAACAGGGA	0.398000																								0							SO:0001583	missense			ENST00000285968.6	1	1	hg19	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.726728	0.89298	.	.	ENSG00000155561	ENST00000285968	T	0.33438	1.41	5.1	5.1	0.69264	.	0.096661	0.64402	D	0.000001	T	0.57125	0.2032	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.56129	-0.8030	10	0.37606	T	0.19	1.6054	18.4985	0.90874	0.0:0.0:1.0:0.0	.	79	Q92621	NU205_HUMAN	V	79	ENSP00000285968:G79V	ENSP00000285968:G79V	G	+	2	0	NUP205	134909006	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.571000	0.98176	2.373000	0.80994	0.484000	0.47621	GGT		TCGA-HZ-8001-01A-11D-2201-08	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1	0	0	0	11	334	0	69	0	3.771939e-03	0	3	0	69	2		0	0	0	0	0	2	1	0.998292	11	330	0	69	2		0	0	0	0	69	2	-3.682763	1	1	0	0		1	0	1	1	2.004344	0	0.150000	1.920000	0.144869	0.430000	0.220000	0.710000	0.420000	0.450490	0.430000	0	3.100000e-01	5.700000e-01
RP1L1	94137	broad.mit.edu	37	8	10468915	10468915	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr8:10468915G>A	ENST00000382483.3	-	4	2916	c.2693C>T	c.(2692-2694)aCg>aTg	p.T898M		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1			148					TGGGGACGGCGTGGGGCCTGG	0.701000																								0							SO:0001583	missense			ENST00000382483.3	0	1	hg19	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	G	13.91	2.378486	0.42207	.	.	ENSG00000183638	ENST00000382483	T	0.04317	3.65	4.18	-1.81	0.07882	.	.	.	.	.	T	0.01905	0.0060	N	0.14661	0.345	0.09310	N	1	P	0.39737	0.685	B	0.28011	0.085	T	0.41556	-0.9502	9	0.44086	T	0.13	4.6758	1.1406	0.01765	0.4403:0.1562:0.245:0.1585	.	898	A6NKC6	.	M	898	ENSP00000371923:T898M	ENSP00000371923:T898M	T	-	2	0	RP1L1	10506325	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.564000	0.05936	-0.265000	0.09352	-0.379000	0.06801	ACG		TCGA-HZ-8001-01A-11D-2201-08	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1	0	0	0	4	72	0	9		0	0	0	0	9	2		0	0	0	0	0	2	1	0.889105	4	71	0	9	2		0	0	0	0	9	2	-8.095815	1	1	0	0		1	1	2	3	2.045816	0	0.150000	1.920000	0.160701	0.820000	0.270000	1.000000	1.000000	0.773359	0.820000	0	4.900000e-01	1
CRB2	286204	broad.mit.edu	37	9	126129592	126129592	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr9:126129592G>A	ENST00000373631.3	+	5	897	c.896G>A	c.(895-897)cGc>cAc	p.R299H	CRB2_ENST00000359999.3_Missense_Mutation_p.R299H|CRB2_ENST00000373629.2_5'Flank	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2			23					TTCAGCTTCCGCCATGCTGCG	0.687000																								0							SO:0001583	missense			ENST00000373631.3	1	1	hg19	CCDS6852.2	.	.	.	.	.	.	.	.	.	.	G	11.90	1.777241	0.31411	.	.	ENSG00000148204	ENST00000359999;ENST00000373631	D;D	0.91843	-2.92;-2.92	5.1	-0.0543	0.13814	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.652576	0.13569	N	0.378198	T	0.81809	0.4901	N	0.19112	0.55	0.09310	N	1	B;B	0.26635	0.096;0.155	B;B	0.19148	0.006;0.024	T	0.69749	-0.5061	10	0.45353	T	0.12	.	5.2636	0.15588	0.3333:0.1413:0.5254:0.0	.	299;299	Q5IJ48;Q5IJ48-2	CRUM2_HUMAN;.	H	299	ENSP00000353092:R299H;ENSP00000362734:R299H	ENSP00000353092:R299H	R	+	2	0	CRB2	125169413	0.000000	0.05858	0.103000	0.21229	0.020000	0.10135	0.113000	0.15499	-0.055000	0.13244	-0.777000	0.03380	CGC		TCGA-HZ-8001-01A-11D-2201-08	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053990.3	1	0	0	12	223	0	67		0	0	0	0	67	2		0	0	0	0	0	2	1	0.999073	12	218	0	65	2		0	0	0	0	67	2	-3.330730	1	1	121282	2	35	1	0	0	0	1.946438	0	0.150000	1.920000	0.116883	0.650000	0.360000	1.000000	1.000000	0.676120	0.650000	0	4.900000e-01	8.500000e-01
STXBP1	6812	broad.mit.edu	37	9	130442473	130442473	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr9:130442473C>G	ENST00000373299.1	+	17	1614	c.1499C>G	c.(1498-1500)cCt>cGt	p.P500R	STXBP1_ENST00000373302.3_Missense_Mutation_p.P500R|STXBP1_ENST00000481942.1_Intron	NM_001032221.3	NP_001027392.1	P61764	STXB1_HUMAN	syntaxin binding protein 1			23					AAACACTACCCTTATATCTCT	0.488000																								0							SO:0001583	missense			ENST00000373299.1	1	1	hg19	CCDS35146.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.601542	0.66445	.	.	ENSG00000136854	ENST00000535154;ENST00000373302;ENST00000541198;ENST00000373299	T;T	0.78481	-1.18;-1.18	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.92024	0.7473	H	0.96301	3.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.992;0.993	D	0.93931	0.7214	10	0.87932	D	0	-5.0024	17.5557	0.87889	0.0:1.0:0.0:0.0	.	500;500	P61764;P61764-2	STXB1_HUMAN;.	R	454;500;332;500	ENSP00000362399:P500R;ENSP00000362396:P500R	ENSP00000362396:P500R	P	+	2	0	STXBP1	129482294	1.000000	0.71417	0.999000	0.59377	0.217000	0.24651	7.648000	0.83479	2.826000	0.97356	0.561000	0.74099	CCT		TCGA-HZ-8001-01A-11D-2201-08	STXBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054229.1	1	0	0	66	735	0	142	0	9.409564e-01	0	54	0	142	2		0	0	0	0	0	2	1	1.000000	65	723	0	142	2		0	0	0	0	142	2	-3.017764	1	1	0	0		1	0	0	0	1.946438	0	0.150000	1.920000	0.116883	0.990000	0.820000	1.000000	1.000000	0.975945	0.990000	1	9.300000e-01	1
PNPLA7	375775	broad.mit.edu	37	9	140357967	140357967	+	Silent	SNP	G	G	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr9:140357967G>A	ENST00000277531.4	-	28	3354	c.3168C>T	c.(3166-3168)taC>taT	p.Y1056Y	PNPLA7_ENST00000371457.1_Silent_p.Y662Y|PNPLA7_ENST00000406427.1_Silent_p.Y1081Y|PNPLA7_ENST00000492278.1_5'UTR	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7			40	all_cancers(76;0.126)				TGGCACGCACGTACCACCACA	0.657000																								0							SO:0001819	synonymous_variant			ENST00000277531.4	0	1	hg19	CCDS7045.1																																																																																				TCGA-HZ-8001-01A-11D-2201-08	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	0	0	0	3	33	0	9	0	6.486631e-01	0	24	0	9	2		0	0	0	0	0	2	1	0.812676	3	33	0	9	2		0	0	0	0	9	2	-7.971221	1	1	119426	5	30	1	0	0	0	1.946438	0	0.150000	1.920000	0.116883	0.920000	0.300000	1.000000	1.000000	0.824929	0.920000	1	5.600000e-01	1
RECK	8434	broad.mit.edu	37	9	36058869	36058869	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr9:36058869C>T	ENST00000377966.3	+	3	771	c.205C>T	c.(205-207)Cga>Tga	p.R69*	RECK_ENST00000479053.1_3'UTR	NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs			32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)		TCTGTTGCAGCGAGCCCCAGA	0.333000																								0							SO:0001587	stop_gained			ENST00000377966.3	0	1	hg19	CCDS6597.1	.	.	.	.	.	.	.	.	.	.	C	41	8.818781	0.98966	.	.	ENSG00000122707	ENST00000377966	.	.	.	5.75	2.47	0.30058	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.11	13.1884	0.59695	0.5131:0.4869:0.0:0.0	.	.	.	.	X	69	.	ENSP00000367202:R69X	R	+	1	2	RECK	36048869	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	1.024000	0.30077	0.720000	0.32209	0.491000	0.48974	CGA		TCGA-HZ-8001-01A-11D-2201-08	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052409.1	1	0	1	35	225	0	52	0	7.467936e-01	0	19	0	52	2		0	0	0	0	0	2	1	1.000000	34	217	0	51	2		0	0	0	0	52	2	-3.223439	1	1	0	0		1	0	2	2	1.956826	1	0.150000	1.920000	0.150000	0.990000	0.990000	1.000000	1.000000	0.999972	0.990000	1	9.900000e-01	1
PTPRD	5789	broad.mit.edu	37	9	8492935	8492935	+	Silent	SNP	G	G	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chr9:8492935G>A	ENST00000381196.4	-	24	2937	c.2394C>T	c.(2392-2394)ctC>ctT	p.L798L	PTPRD_ENST00000360074.4_Silent_p.L785L|PTPRD_ENST00000358503.5_Silent_p.L776L|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000356435.5_Silent_p.L798L|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000540109.1_Silent_p.L798L|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000486161.1_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D			168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)			CTGTGACGGTGAGGGAGTAGG	0.493000										TSP Lung(15;0.13)														0							SO:0001819	synonymous_variant			ENST00000381196.4	1	1	hg19	CCDS43786.1																																																																																				TCGA-HZ-8001-01A-11D-2201-08	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3	1	0	1	76	633	0	127		0	0	0	0	127	2		0	0	0	0	0	2	1	1.000000	75	623	0	125	2		0	0	0	0	127	2	-19.999850	1	1	0	0		1	0	2	2	1.956826	1	0.150000	1.920000	0.150000	0.990000	0.990000	1.000000	1.000000	0.999965	0.990000	1	9.900000e-01	1
NRK	203447	broad.mit.edu	37	X	105153065	105153065	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chrX:105153065C>T	ENST00000243300.9	+	13	1735	c.1432C>T	c.(1432-1434)Ctc>Ttc	p.L478F	NRK_ENST00000428173.2_Missense_Mutation_p.L479F	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase			76					AGCCAGGGTGCTCATGCCACT	0.547000										HNSCC(51;0.14)														0							SO:0001583	missense			ENST00000243300.9	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	9.268	1.045033	0.19748	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.19105	2.17;2.17	4.49	-1.28	0.09318	.	0.656459	0.13499	N	0.383421	T	0.12518	0.0304	L	0.31065	0.9	0.19575	N	0.999962	B;B	0.09022	0.002;0.001	B;B	0.11329	0.006;0.001	T	0.20739	-1.0266	10	0.54805	T	0.06	.	4.6589	0.12632	0.148:0.3881:0.0:0.4639	.	146;478	Q7Z2Y5-2;Q7Z2Y5	.;NRK_HUMAN	F	478;479	ENSP00000434830:L478F;ENSP00000438378:L479F	ENSP00000434830:L478F	L	+	1	0	NRK	105039721	0.208000	0.23494	0.026000	0.17262	0.093000	0.18481	-0.620000	0.05565	-0.437000	0.07243	-0.380000	0.06706	CTC		TCGA-HZ-8001-01A-11D-2201-08	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	1	0	1	42	141	0	25	0	0	0	1	0	25	2		0	0	0	0	0	2	1	1.000000	42	141	0	25	2		0	0	0	0	25	2	-20.000000	1	1	120988	3	33	1	0	1	1			0.150000	1.920000	0.150000	0.960000	0.830000	1.000000	0.990000	0.956337	0.960000	1	9.100000e-01	1
MECP2	4204	broad.mit.edu	37	X	153297998	153297998	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chrX:153297998A>G	ENST00000303391.6	-	3	286	c.37T>C	c.(37-39)Tca>Cca	p.S13P	MECP2_ENST00000453960.2_Missense_Mutation_p.S25P|MECP2_ENST00000407218.1_Missense_Mutation_p.S13P|MECP2_ENST00000460227.1_5'UTR	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2			23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				TGGTCTTCTGACTTTTCTTCC	0.473000																								0							SO:0001583	missense			ENST00000303391.6	0	1	hg19	CCDS14741.1	.	.	.	.	.	.	.	.	.	.	A	18.80	3.701581	0.68501	.	.	ENSG00000169057	ENST00000303391;ENST00000545451;ENST00000453960;ENST00000369964;ENST00000407218;ENST00000415944	D;D;D;D	0.98221	-2.86;-2.82;-4.8;-2.33	5.65	5.65	0.86999	.	0.237548	0.35235	N	0.003354	D	0.97414	0.9154	L	0.27053	0.805	0.38439	D	0.946649	D;D	0.69078	0.997;0.995	P;P	0.60949	0.881;0.763	D	0.98968	1.0800	10	0.52906	T	0.07	-7.5146	13.811	0.63264	1.0:0.0:0.0:0.0	.	25;13	P51608-2;P51608	.;MECP2_HUMAN	P	13;13;25;13;13;13	ENSP00000301948:S13P;ENSP00000395535:S25P;ENSP00000384865:S13P;ENSP00000416267:S13P	ENSP00000301948:S13P	S	-	1	0	MECP2	152951192	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	1.596000	0.36718	1.907000	0.55213	0.430000	0.28490	TCA		TCGA-HZ-8001-01A-11D-2201-08	MECP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061144.1	0	0	0	9	370	0	58	0	3.359203e-01	0	45	0	58	2		0	0	0	0	0	2	1	0.993618	8	361	0	57	2		0	0	0	0	58	2	-8.953115	1	1	0	0		1	0	1	1			0.150000	1.920000	0.150000	0.160000	0.070000	0.280000	0.160000	0.172362	0.160000	0	1.100000e-01	2.200000e-01
P2RY8	286530	broad.mit.edu	37	X	1584907	1584907	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8001-01A-11D-2201-08	TCGA-HZ-8001-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2dfddac-7a27-4b29-b730-d155fac52da4	b31ec204-dc5d-4b68-9139-6b928429f1e7	g.chrX:1584907G>A	ENST00000381297.4	-	2	755	c.545C>T	c.(544-546)aCg>aTg	p.T182M	P2RY8_ENST00000460672.1_5'Flank	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8			23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			GGGGAGCATCGTCCACTTGAG	0.632000			T	CRLF2	B-ALL, Downs associated ALL										Dom	yes		X,Y	Xp22.3; Yp11.3	286530	purinergic receptor P2Y, G-protein coupled, 8		L	0							SO:0001583	missense			ENST00000381297.4	1	1	hg19	CCDS14115.1	.	.	.	.	.	.	.	.	.	.	g	6.863	0.528508	0.13127	.	.	ENSG00000182162	ENST00000381297	T	0.37235	1.21	2.41	-0.826	0.10805	GPCR, rhodopsin-like superfamily (1);	0.698644	0.12787	U	0.439216	T	0.29158	0.0725	L	0.43923	1.385	0.09310	N	1	D	0.53885	0.963	P	0.45138	0.471	T	0.16748	-1.0392	10	0.49607	T	0.09	.	6.573	0.22549	0.0:0.2502:0.5237:0.2261	.	182	Q86VZ1	P2RY8_HUMAN	M	182	ENSP00000370697:T182M	ENSP00000370697:T182M	T	-	2	0	P2RY8	1544907	0.027000	0.19231	0.944000	0.38274	0.013000	0.08279	0.307000	0.19296	-0.018000	0.14079	0.279000	0.19357	ACG		TCGA-HZ-8001-01A-11D-2201-08	P2RY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055602.1	1	0	0	16	252	0	62	0	2.281943e-02	0	4	0	62	2		0	0	0	0	0	2	1	0.999931	15	248	0	62	2		0	0	0	0	62	2	-3.220975	1	1	0	0		1	0	1	1			0.150000	1.920000	0.150000	0.390000	0.230000	0.600000	0.390000	0.410908	0.390000	0	3.100000e-01	5.000000e-01
